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Test # Test Name Additional Information
5 Fluorouracil Sensitivity DYPD 5-Fluorouracil toxicity 5-FU toxicity 5-FU toxicity 5FU toxicity Adrucil (DPYD) Genotyping, 3 Mutations Xeloda (capecitabine) (DPYD) Genotyping, 3 Mutations DPD Uftoral (tegafur/uracil) (DPYD) Genotyping, 3 Mutations
2012166 Dihydropyrimidine Dehydrogenase (DPYD) Genotyping, 3 Mutations 5-Fluorouracil Sensitivity, DYPD 5-Fluorouracil toxicity 5-FU toxicity 5-FU toxicity 5FU toxicity Adrucil (DPYD) Genotyping, 3 Mutations Xeloda (capecitabine) (DPYD) Genotyping, 3 Mutations DPD Uftoral (tegafur/uracil) (DPYD) Genotyping, 3 Mutations AD PCR FE, Skeletal Dysplasias
Achondroplasia Achondroplasia, AD PCR FE, Skeletal Dysplasias
0051266  Achondroplasia (FGFR3) 2 Mutations Achondroplasia, AD PCR FE, Skeletal Dysplasias
0051265 Achondroplasia Mutation, Fetal   Achondroplasia, AD PCR FE, Skeletal Dysplasias
AcylcarnitineAcylcarnitine, CARNPAN Fatty Acid Oxidation Disorders FAOD Mitochondrial, acylcarnitine, free and total carnitine
0081110 Carnitine Panel   Acylcarnitine, CARNPAN Fatty Acid Oxidation Disorders FAOD Mitochondrial, acylcarnitine, free and total carnitine
AcylglycineAcylcarnitine, ACYLCARN 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency HMG-CoA Lyase Deficiency HMGCL Hydroxymethylglutaryl-CoA lyase, mitochondrial HMG Lyase Deficiency 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency HADH Deficiency HADH Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial SCHAD 3-Methylglutaconic Aciduria Type 1 3-Methylglutaconyl-CoA Hydratase Deficiency AUH Methylglutaconyl-CoA hydratase, mitochondrial MGA1 MGA 1 Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency 2-Methyl Butyryl CoA Dehydrogenase Deficiency Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial SCAD Carnitine Palmitoyltransferase IA Deficiency CPT1A Deficiency Hepatic Carnitine Palmitoyltransferase 1 Deficiency Hepatic CPT1 L-CPT 1 Deficiency CPT1A Carnitine O-palmitoyltransferase 1, liver isoform CPT 1 CPT 1A CPTI CPT I Carnitine Palmitoyltransferase II Deficiency CPT II Deficiency CPT2 Carnitine O-palmitoyltransferase 2, mitochondrial CPTII CPT 2 Carnitine-Acylcarnitine Translocase Deficiency CACT Deficiency SLC25A20 Mitochondrial carnitine/acylcarnitine carrier protein Ethylmalonic Encephalopathy Protein ETHE1, mitochondrial ETHE1 EMA Ethyl malonic acid Ethylmalonic acid GA1 Glutaricacidemia Type 1 GAI Glutaricaciduria Type I GCDH Glutaryl-CoA dehydrogenase, mitochondrial Glutaric Acidemia type I Glutaric Acidemia type 1 Glutaric Aciduria type 1 Glutaric Aciduria type I GA 1 GA I Biotin Holocarboxylase Synthetase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Holocarboxylase Synthetase Deficiency Early-Onset Combined Carboxylase Deficiency Early-Onset Multiple Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Isobutyryl-CoA Dehydrogenase Deficiency ACAD8 Isobutyryl-CoA dehydrogenase, mitochondrial Ketothiolase Deficiency Beta-Ketothiolase Deficiency Alpha-Methylacetoaceticaciduria Methylacetoacetyl-CoA Thiolase Deficiency ACAT1 Acetyl-CoA acetyltransferase, mitochondrial Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency LCHAD Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial Medium Chain 3-Ketothiolase Deficiency MCKAT Deficiency Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM MCAD Deficiency Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Multiple Acyl-CoA Dehydrogenase Deficiency Ethylmalonic-Adipicaciduria Glutaric Acidemia II Glutaric Aciduria II MADD ETFA Electron transfer flavoprotein subunit alpha, mitochondrial ETFB Electron transfer flavoprotein subunit beta ETFDH Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial GA2 GA 2 GA II GAII Propionicacidemia Propionic Acidemia PCCA-Related Propionic Acidemia PCCB-Related Propionic Acidemia PCCA Propionyl-CoA carboxylase alpha chain, mitochondrial PCCB Propionyl-CoA carboxylase beta chain, mitochondrial Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS SCAD Deficiency ACADS Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5 Trifunctional Protein Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial HADHB Trifunctional enzyme subunit beta, mitochondrial Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency Very Long Chain Acyl-CoA Dehydrogenase Deficiency | VLCAD Deficiency ACADVL Very long-chain specific acyl-CoA dehydrogenase, mitochondrial
0040033 Acylcarnitine Quantitative Profile, Plasma   Acylcarnitine, ACYLCARN 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency HMG-CoA Lyase Deficiency HMGCL Hydroxymethylglutaryl-CoA lyase, mitochondrial HMG Lyase Deficiency 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency HADH Deficiency HADH Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial SCHAD 3-Methylglutaconic Aciduria Type 1 3-Methylglutaconyl-CoA Hydratase Deficiency AUH Methylglutaconyl-CoA hydratase, mitochondrial MGA1 MGA 1 Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency 2-Methyl Butyryl CoA Dehydrogenase Deficiency Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial SCAD Carnitine Palmitoyltransferase IA Deficiency CPT1A Deficiency Hepatic Carnitine Palmitoyltransferase 1 Deficiency Hepatic CPT1 L-CPT 1 Deficiency CPT1A Carnitine O-palmitoyltransferase 1, liver isoform CPT 1 CPT 1A CPTI CPT I Carnitine Palmitoyltransferase II Deficiency CPT II Deficiency CPT2 Carnitine O-palmitoyltransferase 2, mitochondrial CPTII CPT 2 Carnitine-Acylcarnitine Translocase Deficiency CACT Deficiency SLC25A20 Mitochondrial carnitine/acylcarnitine carrier protein Ethylmalonic Encephalopathy Protein ETHE1, mitochondrial ETHE1 EMA Ethyl malonic acid Ethylmalonic acid GA1 Glutaricacidemia Type 1 GAI Glutaricaciduria Type I GCDH Glutaryl-CoA dehydrogenase, mitochondrial Glutaric Acidemia type I Glutaric Acidemia type 1 Glutaric Aciduria type 1 Glutaric Aciduria type I GA 1 GA I Biotin Holocarboxylase Synthetase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Holocarboxylase Synthetase Deficiency Early-Onset Combined Carboxylase Deficiency Early-Onset Multiple Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Isobutyryl-CoA Dehydrogenase Deficiency ACAD8 Isobutyryl-CoA dehydrogenase, mitochondrial Ketothiolase Deficiency Beta-Ketothiolase Deficiency Alpha-Methylacetoaceticaciduria Methylacetoacetyl-CoA Thiolase Deficiency ACAT1 Acetyl-CoA acetyltransferase, mitochondrial Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency LCHAD Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial Medium Chain 3-Ketothiolase Deficiency MCKAT Deficiency Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM MCAD Deficiency Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Multiple Acyl-CoA Dehydrogenase Deficiency Ethylmalonic-Adipicaciduria Glutaric Acidemia II Glutaric Aciduria II MADD ETFA Electron transfer flavoprotein subunit alpha, mitochondrial ETFB Electron transfer flavoprotein subunit beta ETFDH Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial GA2 GA 2 GA II GAII Propionicacidemia Propionic Acidemia PCCA-Related Propionic Acidemia PCCB-Related Propionic Acidemia PCCA Propionyl-CoA carboxylase alpha chain, mitochondrial PCCB Propionyl-CoA carboxylase beta chain, mitochondrial Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS SCAD Deficiency ACADS Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5 Trifunctional Protein Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial HADHB Trifunctional enzyme subunit beta, mitochondrial Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency Very Long Chain Acyl-CoA Dehydrogenase Deficiency | VLCAD Deficiency ACADVL Very long-chain specific acyl-CoA dehydrogenase, mitochondrial, ACYLGLY MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC2-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC1 MCCC2 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial 3 MCC 3MCC Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency 2-Methyl Butyryl CoA Dehydrogenase Deficiency Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial SCAD Ethylmalonic Encephalopathy Protein ETHE1, mitochondrial ETHE1 EMA Ethyl malonic acid Ethylmalonic acid Fatty Acid Oxidation Disorders FAOD Biotin Holocarboxylase Synthetase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Holocarboxylase Synthetase Deficiency Early-Onset Combined Carboxylase Deficiency Early-Onset Multiple Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Isobutyryl-CoA Dehydrogenase Deficiency ACAD8 Isobutyryl-CoA dehydrogenase, mitochondrial Ketothiolase Deficiency Beta-Ketothiolase Deficiency Alpha-Methylacetoaceticaciduria Methylacetoacetyl-CoA Thiolase Deficiency ACAT1 Acetyl-CoA acetyltransferase, mitochondrial Medium Chain 3-Ketothiolase Deficiency MCKAT Deficiency Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM MCAD Deficiency Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS SCAD Deficiency ACADS
0081170 Acylglycine, Quantitative, Urine   Acylglycine, ACYLGLY MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC2-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC1 MCCC2 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial 3 MCC 3MCC Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency 2-Methyl Butyryl CoA Dehydrogenase Deficiency Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial SCAD Ethylmalonic Encephalopathy Protein ETHE1, mitochondrial ETHE1 EMA Ethyl malonic acid Ethylmalonic acid Fatty Acid Oxidation Disorders FAOD Biotin Holocarboxylase Synthetase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Holocarboxylase Synthetase Deficiency Early-Onset Combined Carboxylase Deficiency Early-Onset Multiple Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Isobutyryl-CoA Dehydrogenase Deficiency ACAD8 Isobutyryl-CoA dehydrogenase, mitochondrial Ketothiolase Deficiency Beta-Ketothiolase Deficiency Alpha-Methylacetoaceticaciduria Methylacetoacetyl-CoA Thiolase Deficiency ACAT1 Acetyl-CoA acetyltransferase, mitochondrial Medium Chain 3-Ketothiolase Deficiency MCKAT Deficiency Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM MCAD Deficiency Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS SCAD Deficiency ACADS
Alpha Fetoprotein, Aminotic FluidAlpha Fetoprotein, Amniotic Fluid, AF AFP, Prenatal Screening and Diagnosis, HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin,ALPHA THAL, AG FGA, Hemoglobinopathies, A1A GENO, AAT
3000142 Alpha Fetoprotein (Amniotic Fluid) with Reflex to Acetylcholinesterase and Fetal Hemoglobin   Alpha Fetoprotein, Amniotic Fluid, AF AFP, Prenatal Screening and Diagnosis ACHE
Alpha ThalassemiaAlpha Thalassemia, HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin, ALPHA THAL, AG FGA, Hemoglobinopathies
3003651 Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring HBA DDCS, A globin, Alpha globin gene analysis, Alpha globin mutations
2011622 Alpha Globin (HBA1 and HBA2) Deletion/Duplication Alpha Thalassemia, HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin, Hemoglobinopathies
2011708 Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication Alpha Thalassemia, AG FGA, Hemoglobinopathies
3003656 Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring, Fetal HBA DDCSFE, A globin, Alpha globin gene analysis, Alpha globin mutations
Alpha-1-AntitrypsinAlpha-1-Antitrypsin, A1A GENO, AAT
0051256 Alpha-1-Antitrypsin & A1A Genotype with Reflex to Phenotype Alpha-1-Antitrypsin, A1A GENO, AAT, SERPINA1, S allele, Z allele, Pi typing
Alport SyndromeAlport Syndrome, ALPORT FGA Renal disease, chronic kidney disease, hematuria, APOE AZ
2002398 Alport Syndrome, X-linked (COL4A5) Sequencing and Deletion/Duplication Alport Syndrome, ALPORT FGA Renal disease, chronic kidney disease, hematuria
Alzheimer's DiseaseAlzheimer's Disease, APOE AZ, e2, e3, e4, APP, PSEN1, PSEN2
3001585 Early-Onset Alzheimer's Panel, Sequencing Alzheimer's Disease, APOE AZ, e2, e3, e4, APP, PSEN1, PSEN2
2013341 Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk Alzheimer's Disease, APOE AZ
Amino AcidsAmino Acids, AA QNT Amino Adipic Aciduria Aminoadipicaciduria Arginase Deficiency Hyperargininemia ARG1 Arginase-1 ARG 1 Arginemia Argininosuccinate Lyase Deficiency Argininosuccinic Acid Lyase Deficiency ASL Deficiency ASL Argininosuccinate lyase ASA lyase deficiency Carbamoylphosphate Synthetase I Deficiency Carbamyl Phosphate Synthetase Deficiency CPS1 Deficiency CPS1 Carbamoyl-phosphate synthase [ammonia], mitochondrial CPS 1 CPS I Citrullinemia Type I Argininosuccinate Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency ASS Deficiency Citrullinemia, Classic CTLN1 ASS1 ASS1 Citrullinemia Type II Adult-Onset Type II Citrullinemia CTLN2 SLC25A13 Calcium-binding mitochondrial carrier protein Aralar2 Citrin Deficiency Glycine Encephalopathy NKH Non-Ketotic Hyperglycinemia AMT-Related Glycine Encephalopathy GCSH-Related Glycine Encephalopathy GLDC-Related Glycine Encephalopathy AMT GCSH GLDC Aminomethyltransferase, mitochondrial Glycine cleavage system H protein, mitochondrial Glycine dehydrogenase [decarboxylating], mitochondrial SLC6A19 Hartnup Disease Sodium-dependent neutral amino acid transporter B(0) Histidinemia HAL Deficiency Histidase Deficiency HAL Histidine ammonia-lyase Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency Homocystinuria, Cystathionine Beta-Synthase Deficiency CBS Cystathionine beta-synthase Hydroxyprolinemia hydroxyproline Hyper-Beta-Alaninemia Hyperalaninemia alanine Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Isolated Persistent Hypermethioninemia Methionine Adenosyltransferase Deficiency MAT1A S-adenosylmethionine synthetase isoform type-1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Maple Syrup Urine Disease BCKD Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Branched-Chain Ketoaciduria Maple Syrup Disease MSUD Maple Syrup Urine Disease Type 1A Maple Syrup Urine Disease Type 1B Maple Syrup Urine Disease Type 2 BCKDHA 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial BCKDHB 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial DBT Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial Methylmalonic Acidemia Methylmalonicaciduria Methylmalonic Aciduria MCEE-Related Methylmalonic Acidemia MMAA-Related Methylmalonic Acidemia MMAB-Related Methylmalonic Acidemia MMADHC-Related Methylmalonic Acidemia MUT-Related Methylmalonic Acidemia MCEE Methylmalonyl-CoA epimerase, mitochondrial MMAA Methylmalonic aciduria type A protein, mitochondrial MMAB Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial MMADHC Methylmalonic aciduria and homocystinuria type D protein, mitochondrial MUT Methylmalonyl-CoA mutase, mitochondrial MMA Ornithine Aminotransferase Deficiency Hyperornithinemia with Gyrate Atrophy of Choroid and Retina OAT Ornithine aminotransferase, mitochondrial Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Phenylalanine Hydroxylase Deficiency PAH Deficiency Hyperphenylalaninemia Phenylketonuria Variant PKU PAH Phenylalanine-4-hydroxylase PKU Tyrosinemia Type I FAH Deficiency Fumarylacetoacetase Deficiency Fumarylacetoacetate Hydrolase Deficiency Hepatorenal Tyrosinemia Hereditary Tyrosinemia Type I FAH Fumarylacetoacetase Tyrosinemia Type II Keratosis Palmoplantaris with Corneal Dystrophy Oculocutaneous Tyrosinemia Oregon Type Tyrosinemia Richner-Hanhart Syndrome TAT Deficiency Tyrosine Aminotransferase Deficiency Tyrosine Transaminase Deficiency TAT Tyrosine aminotransferase Tyrosinemia Type III 4-Hydroxyphenylpyruvate Dioxygenase Deficiency HPD 4-hydroxyphenylpyruvate dioxygenase, UAA QNT Amino Adipic Aciduria Aminoadipicaciduria CSNU1 CSNU3 Cystinuria Cystinuria, Type I Cystinuria, Type II Cystinuria, Type III SLC3A1 Neutral and basic amino acid transport protein rBAT SLC7A9 B(0,+)-type amino acid transporter 1 SLC6A19 Hartnup Disease Sodium-dependent neutral amino acid transporter B(0) Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Hydroxyprolinemia, CSF AA QNT Glycine Encephalopathy NKH Non-Ketotic Hyperglycinemia AMT-Related Glycine Encephalopathy GCSH-Related Glycine Encephalopathy GLDC-Related Glycine Encephalopathy AMT GCSH GLDC Aminomethyltransferase, mitochondrial Glycine cleavage system H protein, mitochondrial Glycine dehydrogenase [decarboxylating], mitochondrial
2009389 Amino Acids Quantitative by LC-MS/MS, Plasma   Amino Acids, AA QNT Amino Adipic Aciduria Aminoadipicaciduria Arginase Deficiency Hyperargininemia ARG1 Arginase-1 ARG 1 Arginemia Argininosuccinate Lyase Deficiency Argininosuccinic Acid Lyase Deficiency ASL Deficiency ASL Argininosuccinate lyase ASA lyase deficiency Carbamoylphosphate Synthetase I Deficiency Carbamyl Phosphate Synthetase Deficiency CPS1 Deficiency CPS1 Carbamoyl-phosphate synthase [ammonia], mitochondrial CPS 1 CPS I Citrullinemia Type I Argininosuccinate Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency ASS Deficiency Citrullinemia, Classic CTLN1 ASS1 ASS1 Citrullinemia Type II Adult-Onset Type II Citrullinemia CTLN2 SLC25A13 Calcium-binding mitochondrial carrier protein Aralar2 Citrin Deficiency Glycine Encephalopathy NKH Non-Ketotic Hyperglycinemia AMT-Related Glycine Encephalopathy GCSH-Related Glycine Encephalopathy GLDC-Related Glycine Encephalopathy AMT GCSH GLDC Aminomethyltransferase, mitochondrial Glycine cleavage system H protein, mitochondrial Glycine dehydrogenase [decarboxylating], mitochondrial SLC6A19 Hartnup Disease Sodium-dependent neutral amino acid transporter B(0) Histidinemia HAL Deficiency Histidase Deficiency HAL Histidine ammonia-lyase Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency Homocystinuria, Cystathionine Beta-Synthase Deficiency CBS Cystathionine beta-synthase Hydroxyprolinemia hydroxyproline Hyper-Beta-Alaninemia Hyperalaninemia alanine Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Isolated Persistent Hypermethioninemia Methionine Adenosyltransferase Deficiency MAT1A S-adenosylmethionine synthetase isoform type-1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Maple Syrup Urine Disease BCKD Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Branched-Chain Ketoaciduria Maple Syrup Disease MSUD Maple Syrup Urine Disease Type 1A Maple Syrup Urine Disease Type 1B Maple Syrup Urine Disease Type 2 BCKDHA 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial BCKDHB 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial DBT Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial Methylmalonic Acidemia Methylmalonicaciduria Methylmalonic Aciduria MCEE-Related Methylmalonic Acidemia MMAA-Related Methylmalonic Acidemia MMAB-Related Methylmalonic Acidemia MMADHC-Related Methylmalonic Acidemia MUT-Related Methylmalonic Acidemia MCEE Methylmalonyl-CoA epimerase, mitochondrial MMAA Methylmalonic aciduria type A protein, mitochondrial MMAB Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial MMADHC Methylmalonic aciduria and homocystinuria type D protein, mitochondrial MUT Methylmalonyl-CoA mutase, mitochondrial MMA Ornithine Aminotransferase Deficiency Hyperornithinemia with Gyrate Atrophy of Choroid and Retina OAT Ornithine aminotransferase, mitochondrial Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Phenylalanine Hydroxylase Deficiency PAH Deficiency Hyperphenylalaninemia Phenylketonuria Variant PKU PAH Phenylalanine-4-hydroxylase PKU Tyrosinemia Type I FAH Deficiency Fumarylacetoacetase Deficiency Fumarylacetoacetate Hydrolase Deficiency Hepatorenal Tyrosinemia Hereditary Tyrosinemia Type I FAH Fumarylacetoacetase Tyrosinemia Type II Keratosis Palmoplantaris with Corneal Dystrophy Oculocutaneous Tyrosinemia Oregon Type Tyrosinemia Richner-Hanhart Syndrome TAT Deficiency Tyrosine Aminotransferase Deficiency Tyrosine Transaminase Deficiency TAT Tyrosine aminotransferase Tyrosinemia Type III 4-Hydroxyphenylpyruvate Dioxygenase Deficiency HPD 4-hydroxyphenylpyruvate dioxygenase,CSF AA QNT Glycine Encephalopathy NKH Non-Ketotic Hyperglycinemia AMT-Related Glycine Encephalopathy GCSH-Related Glycine Encephalopathy GLDC-Related Glycine Encephalopathy AMT GCSH GLDC Aminomethyltransferase, mitochondrial Glycine cleavage system H protein, mitochondrial Glycine dehydrogenase [decarboxylating], mitochondria
2009419 Amino Acids Quantitative by LC-MS/MS, Urine   Amino Acids, UAA QNT Amino Adipic Aciduria Aminoadipicaciduria CSNU1 CSNU3 Cystinuria Cystinuria, Type I Cystinuria, Type II Cystinuria, Type III SLC3A1 Neutral and basic amino acid transport protein rBAT SLC7A9 B(0,+)-type amino acid transporter 1 SLC6A19 Hartnup Disease Sodium-dependent neutral amino acid transporter B(0) Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Hydroxyprolinemia
0080137 Amino Acids Quantitative, CSF   Amino Acids, CSF AA QNT Glycine Encephalopathy NKH Non-Ketotic Hyperglycinemia AMT-Related Glycine Encephalopathy GCSH-Related Glycine Encephalopathy GLDC-Related Glycine Encephalopathy AMT GCSH GLDC Aminomethyltransferase, mitochondrial Glycine cleavage system H protein, mitochondrial Glycine dehydrogenase [decarboxylating], mitochondrial
Angelman SyndromeAngelman Syndrome, AS PWS, Angelman, Prader-Willi Syndrome, Neurocognitive Impairments,UBE3A FGS, D15S10
2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation Angelman Syndrome, AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments, UBE3A
2005564 Angelman Syndrome (UBE3A) Sequencing   Angelman Syndrome, UBE3A FGS
2012232 Angelman Syndrome and Prader-Willi Syndrome by Methylation, Fetal   Angelman Syndrome, AS PWS FE Prader-Labhart-Willi Syndrome, AS, PWS, UBE3A
2002299 Chromosome FISH, Metaphase—Angelman syndrome (15q11.2-13)   Angelman Syndrome, AS; D15S10
AortopathiesAortopathies, FBN1 FGA, FBN1 FGS, AORT PANEL, Thoracic aortic aneurysms, dissections, familial thoracic TAAD AAT, ACTA2 (AAT6), FBN1, MYH11 (AAT4), MYLK (AAT7), SMAD3, TGFBR1 (AAT5), TGFBR2 (AAT3), SLC2A10, FBN2, COL3A1 ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2, LDS FGS, Loeys-Dietz, aortic aneurysm
2005584 Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication Aortopathies, FBN1 FGA, connective tissue
2005589 Marfan Syndrome (FBN1) Sequencing   Aortopathies, FBN1 FGS, connective tissue
2006540 Aortopathy Panel, Sequencing and Deletion/Duplication Aortopathies, AORT PANEL, Thoracic aortic aneurysms, dissections, familial thoracic TAAD AAT, ACTA2 (AAT6), FBN1, MYH11 (AAT4), MYLK (AAT7), SMAD3, TGFBR1 (AAT5), TGFBR2 (AAT3), SLC2A10, FBN2, COL3A1 ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2, FLNA, LOX, TGFB3, EFEMP2, PRKG1, connective tissue
2002705 TGFBR1 & TGFBR2 Sequencing Aortopathies, LDS FGS, Loeys-Dietz, aortic aneurysm, TGFBR1, TGFBR2, connective tissue
  —see Loeys-Dietz Syndrome   Aortopathies,  
  —see Marfan Syndrome and FBN1-Related Disorders   Aortopathies,  
Apolipoprotein B (APOB)Apolipoprotein B (APOB), APO B, Risk Markers - CVD (Non-traditional), APOE AZ, APOE CR
0055654 Apolipoprotein B Mutation Detection (G9775A, C9774T) Apolipoprotein B (APOB), APO B, Risk Markers - CVD (Non-traditional), FDB
Apolipoprotein E (APOE)Apolipoprotein E (APOE), APOE AZ, APOE CR
2013341 Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk Apolipoprotein E (APOE), APOE AZ, e2, e3, e4
2013337 Apolipoprotein E (APOE) Genotyping, Cardiovascular Risk   Apolipoprotein E (APOE), APOE CR, HPL III
Ashkenazi Jewish Panel (16 disorders)Ashkenazi Jewish Panel (16 disorders), AJP, Jewish Genetic, Fanconi's, Fanconis, ABCC8, TMEM216, NEB, G6PC, DLD, BCKDHB, CLRN1, PCDH15, BLM, IKBKAP, FANCC, Jewish, Ashkenazi, carrier testing, DNA, MCOLN1, lysosomal, SMPD1, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del, HEXA, Jewish Genetic, Hex A, GM2 gangliosidosis, hexosaminidase, lysosomal storage, delta 7.6kb, IVS9(+1)G>A, 1278insTATC, IVS12(+1)G>C, G269S, R247W, R249W, GBA, Glucocerebrosidase, Glucosylceramidase
0051415 Ashkenazi Jewish Diseases, 16 Genes Ashkenazi Jewish Panel (16 disorders), AJP, Jewish Genetic, Fanconi's, Fanconis,ABCC8, TMEM216, NEB, G6PC, DLD, BCKDHB, CLRN1, PCDH15, BLM, ASPA, IKBKAP, FANCC, GBA, HEXA, MCOLN1, SMPD1
2013725 ABCC8-Related Hyperinsulinism, 3 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders),  
0051433 Bloom Syndrome (BLM),1 Variant Ashkenazi Jewish Panel (16 disorders), BLM, Jewish Genetic
0051453 Canavan Disease (ASPA), 4 Variants Ashkenazi Jewish Panel (16 disorders), ASPA, Jewish Genetic
0051463 Dysautonomia, Familial (IKBKAP), 2 Variants Ashkenazi Jewish Panel (16 disorders), IKBKAP, Jewish Genetic Disease
0051468 Fanconi Anemia Group C, (FANCC), 2 Variants Ashkenazi Jewish Panel (16 disorders), FANCC, Jewish, Ashkenazi, Fanconi's, Fanconis, carrier testing, DNA
0051438 Gaucher Disease (GBA), 8 Variants   Ashkenazi Jewish Panel (16 disorders), GBA, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase
2013740 Glycogen Storage Disease, Type 1A (G6PC), 9 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders),  
2013909 Joubert Syndrome Type 2 (TMEM216), 1 Variant Additional Technical Information Ashkenazi Jewish Panel (16 disorders),  
2013735 Lipoamide Dehydrogenase Deficiency (DLD), 2 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders),  
2013730 Maple Syrup Urine Disease, Type 1B (BCKDHB), 3 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders),  
0051448 Mucolipidosis Type IV (MCOLN1), 2 Variants Ashkenazi Jewish Panel (16 disorders), MCOLN1, Jewish Genetic, lysosomal
2013745 NEB-Related Nemaline Myopathy, 1 Variant Additional Technical Information Ashkenazi Jewish Panel (16 disorders),  
0051458 Niemann-Pick, Type A (SMPD1), 4 Variants Ashkenazi Jewish Panel (16 disorders), SMPD1, Jewish Genetic, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del
0051428 Tay-Sachs Disease (HEXA), 7 Variants Ashkenazi Jewish Panel (16 disorders), HEXA, Jewish Genetic, Hex A, GM2 gangliosidosis, hexosaminidase, lysosomal storage, delta 7.6kb, IVS9(+1)G>A, 1278insTATC, IVS12(+1)G>C, G269S, R247W, R249W
2013750 Usher Syndrome, Types 1F and 3 (PCDH15 and CLRN1), 2 Variants Additional Technical Information Ashkenazi Jewish Panel (16 disorders),  
AutismAutism, Creatine, epilepsy, amino acids, organic acids, mucopolysaccharidoses (MPS), MPS, acylcarnitine, mental retardation, Fragile X, microarray, CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy, intellectual disability, developmental disability, IDD, ID, CMA BUCCAL, CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy, cheek swab, intellectual disability, developmental disability, snip, RETT FGA, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments, SLC6A8, PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, CDKL5 FGA, X-linked infantile spasm, Angelman Syndrome and Prader-Willi Syndrome by Methylation, AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments, UBE3A FGS
2014314 Autism and Intellectual Disability Comprehensive Panel Autism, Creatine, epilepsy, amino acids, organic acids, mucopolysaccharidoses (MPS), MPS, acylcarnitine, mental retardation, Fragile X, microarray, ASD, ID, IDD, FRAX, FMR1, CMA, PDD, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, developmental disability
2003414 Cytogenomic SNP Microarray Autism, CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy, intellectual disability, developmental disability, IDD, ID
2006267 Cytogenomic SNP Microarray Buccal Swab Autism, CMA BUCCAL, CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy, cheek swab, intellectual disability, developmental disability, IDD, ID
2014312 Autism and Intellectual Disability Metabolic Panel Autism, Creatine, epilepsy, amino acids, organic acids, mucopolysaccharidoses (MPS), MPS, acylcarnitine, mental retardation, SLC6A8, microarray
2009353 Cytogenomic SNP Microarray with Five-Cell Chromosome Study, Peripheral Blood Autism, SNP CHR PB, CMA SNP, array, CGH, aCGH, CNV, mental retardation, intellectual and developmental disability, IDD, ID, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy
0051614 Rett Syndrome (MECP2), Full Gene Analysis Autism, RETT FGA, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication Autism, PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation Autism, AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments, UBE3A
2005564 Angelman Syndrome (UBE3A) Sequencing   Autism, UBE3A FGS
Beckwith-WiedemannBeckwith-Wiedemann, Beckwith-Wiedemann, CDKN1C, overgrowth, growth deficiency
3001635 Beckwith-Wiedemann Syndrome (BWS) and Russell-Silver Syndrome (RSS) by Methylation-Specific MLPA Beckwith-Wiedemann, Beckwith-Wiedemann
Beta GlobinBeta Globin, BG SEQ FE, BG FGA, Beta thalassemia, beta globin, HBB
0050388 Beta Globin (HBB) Sequencing, Fetal Beta Globin, BG SEQ FE, β thalassemia, hemoglobinopathy
2010117 Beta Globin (HBB) Sequencing and Deletion/Duplication Beta Globin, BG FGA, Beta thalassemia, beta globin, HBB, β thalassemia, hemoglobinopathy
BiotinidaseBiotinidase, BTD ENZ Biotinidase Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Late-Onset Multiple Carboxylase Deficiency BTD Biotinidase Biotinidase enzyme
0093362 Biotinidase, Serum (with paired normal control) Biotinidase, BTD ENZ Biotinidase Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Late-Onset Multiple Carboxylase Deficiency BTD Biotinidase Biotinidase enzyme
Biotinidase DeficiencyBiotinidase Deficiency, BTD FGS, Multiple carboxylase
0051730 Biotinidase Deficiency (BTD) Sequencing Biotinidase Deficiency, BTD FGS, Multiple carboxylase
Blood GenotypingBlood Genotyping, RHD, Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic, RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility,RH E, KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano, colton,diego,dombrock,duffy,kell,kidd,landsteiner-wiener,lutheran,mns,rh,scianna
0051368 Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) Blood Genotyping, RHD, Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic
3002002 RhC/c (RHCE) Antigen Genotyping Blood Genotyping, RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
3002003 RhE/e (RHCE) Antigen Genotyping Blood Genotyping, RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
3002001 Kell K/k Antigen (KEL) Genotyping Blood Genotyping, KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano
3001053 Red Blood Cell Antigen Genotyping Blood Genotyping, colton,diego,dombrock,duffy,kell,kidd,landsteiner-wiener,lutheran,mns,rh,scianna
Bloom SyndromeBloom Syndrome, BLM, Jewish Genetic, Ashkenazi Jewish
0051433 Bloom Syndrome (BLM),1 Variant Bloom Syndrome, BLM, Jewish Genetic
Breast CancerBreast Cancer, BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, BRCA FGA, BRACA, HBOC, PTEN FGS, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism, TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret, hamartomatous polyps, mucocutaneous hypergigmentation
2012026 Hereditary Breast and Ovarian Cancer Panel, Sequencing and Deletion/Duplication Breast Cancer, BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, HBOC, DICER1, MRE11, NF1, PMS2, RECQL
3001855 BRCA1 and BRCA2-Associated HBOC Syndrome Panel, Sequencing and Deletion/Duplication Breast Cancer, ovarian cancer
2012032 Hereditary Cancer Panel, Sequencing and Deletion/Duplication Breast Cancer, BRCA FGS, BRACA, HBOC, ovarian cancer, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PHOX2B, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1
2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication Breast Cancer, PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Breast Cancer, TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2008398 Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication Breast Cancer, STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation
CADASILCADASIL, opathy, NOTCH3, notch3
3000531 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL CADASIL, opathy, NOTCH3, notch3
Canvas DiseaseCanavan Disease, ASPA, Jewish Genetic, Ashkenazi Jewish
0051453 Canavan Disease (ASPA), 4 Variants Canavan Disease, ASPA, Jewish Genetic
Capillary Malformation-Arteriovenous Malformation (CM-AVM)CMAVM, CMAVM NGS, RASA1, EPHB4,ABCD1, ACADVL, ACVRL1, APC, ATP7A, BMPR1A, BRCA1, BRCA2, CFTR, COL4A5, ENG, F8, F9, FBN1, HBB, MECP2, MEN1, MLH1, MSH2, MSH6, NF1, OTC, PKD1, PKD2, PLOD1, PMS2, PRSS1, PTEN, RASA1, SDHB, SDHC, SDHD, SLC22A5, SHOX, SMAD4, SPINK1, SPRED1, STK11, TP53, VHL
3003634 Capillary Malformation-Arteriovenous Malformation (CM-AVM) Panel, Sequencing and Deletion/Duplication CMAVM, CMAVM NGS, RASA1, EPHB4
3003144 Deletion/Duplication Analysis by MLPA   ABCD1, ACADVL, ACVRL1, APC, ATP7A, BMPR1A, BRCA1, BRCA2, CFTR, COL4A5, ENG, F8, F9, FBN1, HBB, MECP2, MEN1, MLH1, MSH2, MSH6, NF1, OTC, PKD1, PKD2, PLOD1, PMS2, PRSS1, PTEN, RASA1, SDHB, SDHC, SDHD, SLC22A5, SHOX, SMAD4, SPINK1, SPRED1, STK11, TP53, VHL
CardiomyopathyABCC9, ACTC1, ACTN2, ANK2, ANKRD1, BAG3, CACNA1C, CACNB2, CASQ2, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FKRP, FKTN, GAA, GATAD1, GLA, GPD1L, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, TAZ, TCAP, TGFB3, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, VCL, CARDIACPAN, Arrhythmogenic right ventricular cardiomyopathy (ARVC), Arrhythmogenic right ventricular dysplasia (ARVD), Brugada syndrome (BrS), Catecholaminergic polymorphic ventricular tachycardia (CPVT), Dilated cardiomyopathy (DCM), Familial dilated cardiomyopathy (FDC), Familial polymorphic cardiomyopathy (FPVT), Hypertrophic cardiomyopathy (HCM), Jervell and Lange-Nielsen syndrome, Left ventricular noncompaction (LVNC), Long QT syndrome (LQTS), Romano-Ward, Short QT syndrome (SQTS), Uhl anomaly
2010183 Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Cardiomyopathy, CARDIACPAN, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM), Arrhythmogenic right vernticular cardiomyopathy (ARVC), Left ventricular noncompaction (LVNC), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada syndrome (BrS), Long QT syndrome (LQTS), Romano-Ward, Short QT syndrome (SQTS), ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FXN, GAA, GLA, GPD1L, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH10, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, OBSCN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, SYNE1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCL ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FXN, GAA, GLA, GPD1L, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH10, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, OBSCN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, SYNE1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCL, arrhythmogenic right ventricular cardiomyopathy (ARVC), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular noncompaction (LVNC), long QT syndrome (LQTS), Romano-Ward, short QT syndrome (SQTS)
3001579 Hypertrophic Cardiomyopathy Panel, Sequencing HCM, familial hypertrophic cardiomyopathy (FHCM), Danon disease, Fabry disease, glycogen storage disease II (Pompe), Noonan syndrome, RASopathies, transthyretin amyloidosis, ACTC1, ACTN2, AGL, ALPK3, BRAF, CACNA1C, CSRP3, DES, FHL1, FLNC, GAA, GLA, HRAS, JPH2, KRAS, LAMP2, MAP2K1, MAP2K2, MYBPC3, MYH7, MYL2, MYL3, NRAS, PLN, PRKAG2, PTPN11, RAF1, RIT1, SOS1, TNNC1, TNNI3, TNNT2, TPM1, TTR
3001581 Dilated Cardiomyopathy Panel, Sequencing DCM, familial dilated cardiomyopathy (FDCM), Alstrom syndrome, Barth syndrome, Carvajal syndrome, congenital disorder of glycosylation 1M, Duchenne/Becker muscular dystrophy, Emery-Dreifuss muscular dystrophy (EDMD), ABCC9, ACTC1, ACTN2, ALMS1, BAG3, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, EMD, FKTN, FLNC, GLA, JUP, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, PKP2, PLN, PRDM16, PRKAG2, RAF1, RBM20, RYR2, SCN5A, SGCD, TAZ, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL
3001603 Long QT Panel, Sequencing and Deletion/Duplication Long QT syndrome (LQTS), Andersen-Tawil syndrome, Timothy syndrome, Jervell and Lange-Nielson syndrome, short QT syndrome (SQTS), CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A
CarnitineCarnitine, CARNPAN Fatty Acid Oxidation Disorders FAOD Mitochondrial, acylcarnitine, free and total carnitine, OCTN2 CARN F&T Carnitine Palmitoyltransferase IA Deficiency CPT1A Deficiency Hepatic Carnitine Palmitoyltransferase 1 Deficiency Hepatic CPT1 L-CPT 1 Deficiency CPT1A Carnitine O-palmitoyltransferase 1, liver isoform CPT 1 CPT 1A CPTI CPT I Carnitine Palmitoyltransferase II Deficiency CPT II Deficiency CPT2 Carnitine O-palmitoyltransferase 2, mitochondrial CPTII CPT 2 Carnitine-Acylcarnitine Translocase Deficiency CACT Deficiency SLC25A20 Mitochondrial carnitine/acylcarnitine carrier protein Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5, OCTN2 CARN URINE Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect, CARN, CARN TOTAL
0081110 Carnitine Panel   Carnitine, CARNPAN Fatty Acid Oxidation Disorders FAOD Mitochondrial, acylcarnitine, free and total carnitine
0080068 Carnitine, Free and Total, Plasma   Carnitine, OCTN2 CARN F&T Carnitine Palmitoyltransferase IA Deficiency CPT1A Deficiency Hepatic Carnitine Palmitoyltransferase 1 Deficiency Hepatic CPT1 L-CPT 1 Deficiency CPT1A Carnitine O-palmitoyltransferase 1, liver isoform CPT 1 CPT 1A CPTI CPT I Carnitine Palmitoyltransferase II Deficiency CPT II Deficiency CPT2 Carnitine O-palmitoyltransferase 2, mitochondrial CPTII CPT 2 Carnitine-Acylcarnitine Translocase Deficiency CACT Deficiency SLC25A20 Mitochondrial carnitine/acylcarnitine carrier protein Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5
0081308 Carnitine, Free and Total, Urine   Carnitine, OCTN2 CARN URINE Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5
Carnitine DeficiencyCarnitine Deficiency, PCD FGA, OCTN2, carnitine uptake
2004203 Carnitine Deficiency, Primary (SLC22A5) Sequencing and Deletion/Duplication Carnitine Deficiency, PCD FGA, OCTN2, carnitine uptake
Carrier Screening PanelsCarrier Screening Panels, AJP, Jewish Genetic, Fanconi's, Fanconis,ABCC8, TMEM216, NEB, G6PC, DLD, BCKDHB, CLRN1, PCDH15, CF FX SMA, ECS SEQ,
0051415 Ashkenazi Jewish Diseases, 16 Genes Carrier Screening Panels, AJP, Jewish Genetic, Fanconi's, Fanconis,ABCC8, TMEM216, NEB, G6PC, DLD, BCKDHB, CLRN1, PCDH15, BLM, ASPA, IKBKAP, FANCC, GBA, HEXA, MCOLN1, SMPD1
3000258 Genetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation   Carrier Screening Panels, CF FX SMA, CFTR, SMN1, FMR1, FraX
2014680 Expanded Carrier Screen by Next Generation Sequencing Carrier Screening Panels, ECS SEQ
2014677 Expanded Carrier Screen by Next Generation Sequencing with Fragile X Carrier Screening Panels, ECS SEQ FX
Celiac DiseaseCeliac Disease, HLA CELIAC, HLA-DQ2, HLA-DQ8 
2005018 Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping Celiac Disease, HLA CELIAC, HLA-DQ2, HLA-DQ8 
Cerebral Cavernous MalformationCerebral Cavernous Malformation, CCM2, KRIT1, PDCD10, CCM, FCCM
3002286 Cerebral Cavernous Malformation Panel, Sequencing and Deletion/Duplication   Cerebral Cavernous Malformation, CCM2, KRIT1, PDCD10, CCM, FCCM
Charcot-Marie-Tooth DiseaseCharcot-Marie-Tooth Disease, CMT DD, CMT, PMP22, CMT1, CMT1A, AARS, AIFM1, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1*, DYNC1H1, EGR2, ELP1, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MORC2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SCN9A, SETX*, SH3TC2, SLC12A6, SLC5A7, SPTLC1*, SPTLC2, TDP1, TFG, TRIM2, TRPV4, TTR, WNK1, YARS, Charcot-Marie-Tooth Disease, CMT DD, CMT, PMP22, CMT1, CMT1A
2012160 Charcot-Marie-Tooth Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP22 Deletion/Duplication Charcot-Marie-Tooth Disease, CMT DD, CMT, PMP22, CMT1, CMT1A
2012155 Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/ Duplication with Reflex to Sequencing Panel   AARS, AIFM1, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1*, DYNC1H1, EGR2, ELP1, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MORC2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SCN9A, SETX*, SH3TC2, SLC12A6, SLC5A7, SPTLC1*, SPTLC2, TDP1, TFG, TRIM2, TRPV4, TTR, WNK1, YARS, Charcot-Marie-Tooth Disease, CMT DD, CMT, PMP22, CMT1, CMT1A
2012151 Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing   AARS, AIFM1, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1*, DYNC1H1, EGR2, ELP1, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MORC2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SCN9A, SETX*, SH3TC2, SLC12A6, SLC5A7, SPTLC1*, SPTLC2, TDP1, TFG, TRIM2, TRPV4, TTR, WNK1, YARS, Charcot-Marie-Tooth Disease, CMT DD, CMT
ChimerismChimerism, STR-PRE, STR-DONOR, STR-POSTSC
2002065 Chimerism, Recipient Pre-Transplant Chimerism, STR-PRE
2002067 Chimerism, Donor   Chimerism, STR-DONOR
2002064 Chimerism, Post-Transplant, Sorted Cells   Chimerism, STR-POSTSC
2002066 Chimerism, Post-Transplant   Chimerism, STR-POST
Citrullinemia, Type ICitrullinemia, Type I, urea cycle
2007069 Citrullinemia, Type I (ASS1) Sequencing Citrullinemia, Type I, urea cycle
Cobalamin/Propionate/Homocysteine Metabolism Related DisordersCobalamin/Propionate/Homocysteine Metabolism Related Disorders, VB12 PANEL, "ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, HCFC1, LMBRD1, MAT1A, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2 Methylmalonic aciduria and homocystinuria, cblJ type Combined malonic and methylmalonic aciduria Megaloblastic anemia-1, Norwegian type Homocystinuria due to cystathionine beta-synthase deficiency Methylmalonic aciduria due to transcobalamin receptor defect Megaloblastic anemia-1, Finnish type Intrinsic factor deficiency Methylmalonic acidemia and homocysteinemia, cblX type Methylmalonic aciduria and homocystinuria, cblF type Methionine adenosyltransferase deficiency Methylmalonyl-CoA epimerase deficiency Methylmalonic aciduria, cblA type Methylmalonic aciduria, cblB type Methylmalonic aciduria and homocystinuria, cblC type Methylmalonic aciduria and homocystinuria, cblD type Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity Homocystinuria-megaloblastic anemia, cblG type Homocystinuria-megaloblastic anemia, cbl E type Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Propionic acidemia Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) Transcobalamin I deficiency Transcobalamin II deficiency, ADK, AHCY, GNMT
2011157 Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication Cobalamin/Propionate/Homocysteine Metabolism Related Disorders, VB12 PANEL, "ABCD4, ACSF3, AMN, CBS, CD320, CUBN, GIF, HCFC1, LMBRD1, MAT1A, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, PCCA, PCCB, SUCLA2, SUCLG1, TCN1, TCN2 Methylmalonic aciduria and homocystinuria, cblJ type Combined malonic and methylmalonic aciduria Megaloblastic anemia-1, Norwegian type Homocystinuria due to cystathionine beta-synthase deficiency Methylmalonic aciduria due to transcobalamin receptor defect Megaloblastic anemia-1, Finnish type Intrinsic factor deficiency Methylmalonic acidemia and homocysteinemia, cblX type Methylmalonic aciduria and homocystinuria, cblF type Methionine adenosyltransferase deficiency Methylmalonyl-CoA epimerase deficiency Methylmalonic aciduria, cblA type Methylmalonic aciduria, cblB type Methylmalonic aciduria and homocystinuria, cblC type Methylmalonic aciduria and homocystinuria, cblD type Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity Homocystinuria-megaloblastic anemia, cblG type Homocystinuria-megaloblastic anemia, cbl E type Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Propionic acidemia Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) Transcobalamin I deficiency Transcobalamin II deficiency
Constitutional Chromosome StudiesConstitutional Chromosome Studies, CHR PB, karyotype, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, mental retardation, developmental delay, 45X, 45,X, XXY, XYY, anomalies, birth defects, infertility, CHR R/OM, PB REFLEX, SNP CHR PB, mosaic, trisomy 21, T21, karyotype, congenital anomalies, MCA, birth defects, autism, PDD, pervasive, ASD, intellectual disability, developmental disability, IDD, ID, snip, LOH, UPD, uniparental disomy, prenatal, amnio, amniocytes, AF REFLEX, 45,X, 45X, AF, ambiguous genitalia, amnio, cardiac defect, cystic hygroma, Down syndrome, Down’s syndrome, Downs syndrome, Edward’s, Edwards, heart defect, Increased NT, inversion, karyotype, karyotypes, Kleinfelter, Klienfelters, Klinefelter’s, MCA, monosomy, multiple congenital abnormalities, multiple congenital anomalies, NT, nuchal translucency, Pateau, prenatal, sex chromosome, T13, T18, T21, translocation, trisomy 13, trisomy 18, trisomy 21, Turner syndrome, Turner’s syndrome, Turners syndrome, XO, XXY, XYY Array CGH (Microarray Genomic, Fetal), Comparative Genomic Hybridization (Microarray Genomic, Fetal), Microarray (Microarray Genomic, Fetal), Oligo Array (Microarray Genomic, Fetal) , BREAKAGE, Fanconi anemia, Fanconi’s, Fanconis, diagnostic
2002289 Chromosome Analysis, Peripheral Blood Constitutional Chromosome Studies, CHR PB, karyotype, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, mental retardation, developmental delay, 45X, 45,X, XXY, XYY, anomalies, birth defects, infertility
2002287 Chromosome Analysis, Rule Out Mosaicism Constitutional Chromosome Studies, CHR R/OM, Turner, Turners, Turner's, 45X, 45,X, mosaic, Down, Downs, Down's, trisomy 21, T21, karyotype
2005763 Chromosome Analysis, Peripheral Blood, with Reflex to Genomic Microarray Constitutional Chromosome Studies, PB REFLEX, SNP CHR PB, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, mental retardation, developmental delay, 45X, 45,X, XXY, XYY, congenital anomalies, MCA, birth defects, autism, PDD, pervasive, ASD, intellectual disability, developmental disability, IDD, ID
2009353 Cytogenomic SNP Microarray with Five-Cell Chromosome Study, Peripheral Blood Constitutional Chromosome Studies, SNP CHR PB, CMA SNP, array, CGH, aCGH, CNV, mental retardation, intellectual and developmental disability, IDD, ID, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy
2002293 Chromosome Analysis, Amniotic Fluid Constitutional Chromosome Studies, CHR AF, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes
2008367 Chromosome Analysis, Amniotic Fluid, with Reflex to Genomic Microarray Constitutional Chromosome Studies, AF REFLEX, 45,X, 45X, AF, ambiguous genitalia, amnio, cardiac defect, cystic hygroma, Down syndrome, Down’s syndrome, Downs syndrome, Edward’s, Edwards, heart defect, Increased NT, inversion, karyotype, karyotypes, Kleinfelter, Klienfelters, Klinefelter’s, MCA, monosomy, multiple congenital abnormalities, multiple congenital anomalies, NT, nuchal translucency, Pateau, prenatal, sex chromosome, T13, T18, T21, translocation, trisomy 13, trisomy 18, trisomy 21, Turner syndrome, Turner’s syndrome, Turners syndrome, XO, XXY, XYY Array CGH (Microarray Genomic, Fetal), Comparative Genomic Hybridization (Microarray Genomic, Fetal), Microarray (Microarray Genomic, Fetal), Oligo Array (Microarray Genomic, Fetal)
2011130 Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray Constitutional Chromosome Studies, AF F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes
2002291 Chromosome Analysis, Chorionic Villus Sampling (CVS) Constitutional Chromosome Studies, CHR CVS, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, villi, placenta
2011131 Chromosome FISH, CVS with Reflex to Chromosome Analysis or Genomic Microarray Constitutional Chromosome Studies, CVS F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes
2002288 Chromosome Analysis, Products of Conception Constitutional Chromosome Studies, CHR POC, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, fetus, fetal, villi, placenta, pregnancy loss
2005762 Chromosome Analysis, Products of Conception, with Reflex to Genomic Microarray Constitutional Chromosome Studies, POC REFLEX, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, fetus, fetal, villi, placenta, pregnancy loss
2002286 Chromosome Analysis, Skin Biopsy Constitutional Chromosome Studies, CHR SKIN, tissue, karyotype, mosaic, mosaicism
0097688 Chromosome Analysis—Breakage, Fanconi Anemia Constitutional Chromosome Studies, BREAKAGE, Fanconi anemia, Fanconi’s, Fanconis, diagnostic
CreatineCreatine, SLC6A8 FGA, SLC6A8-Related Creatine Transporter Deficiency, SLC6A8 Deficiency, GAMT FGS, GAA, creatine, creatine deficiency, guanidinoacetate N-methyltransferase, GAMT deficiency, AGAT FGS, AGAT, l-arginine:glycine, creatine, creatine deficiency , AGAT deficiency, GAA CRTN DIS P Guanidinoacetate, GATM Glycine amidinotransferase, mitochondrial AGAT deficiency, Deficiency Mental Retardation, X-Linked, with Creatine Transport Deficiency SLC6A8 Deficiency SLC6A8 Sodium- and chloride-dependent creatine transporter 1
2011140 Guanidinoacetate Methyltransferase (GAMT) Deficiency Sequencing Creatine, GAMT FGS, GAA, creatine, creatine deficiency, guanidinoacetate N-methyltransferase, GAMT deficiency
2002328 Creatine Disorders Panel, Plasma or Serum Additional Technical Information Creatine, GAMT, AGAT, SLC6A8, guanidinoacetate, GAA CRTN DIS P Guanidinoacetate Methyltransferase Deficiency GAMT Deficiency GAMT Guanidinoacetate N-methyltransferase GAA L-Arginine:Glycine Amidinotransferase Deficiency GATM Deficiency GATM Glycine amidinotransferase, mitochondrial AGAT deficiency SLC6A8-Related Creatine Transporter Deficiency Mental Retardation, X-Linked, with Creatine Transport Deficiency SLC6A8 Deficiency SLC6A8 Sodium- and chloride-dependent creatine transporter 1
2002333 Creatine Disorders Panel, Urine Additional Technical Information Creatine, GAMT, AGAT, SLC6A8, guanidinoacetate, GAA CRTN DIS U Guanidinoacetate Methyltransferase Deficiency GAMT Deficiency GAMT Guanidinoacetate N-methyltransferase GAA L-Arginine:Glycine Amidinotransferase Deficiency GATM Deficiency GATM Glycine amidinotransferase, mitochondrial AGAT deficiency SLC6A8-Related Creatine Transporter Deficiency Mental Retardation, X-Linked, with Creatine Transport Deficiency SLC6A8 Deficiency SLC6A8 Sodium- and chloride-dependent creatine transporter 1
2002343 Creatine, Urine   Creatine, CRTN URINE
2002340 Creatine, Serum or Plasma   Creatine, CRTN SP
Cystic FibrosisCystic Fibrosis, CF-CFTR, Diagnostic, CF,CF VAR,CF VAR FE, CF VAR SEQ, CFVAR COMP
0051110 Cystic Fibrosis (CFTR) Sequencing Cystic Fibrosis, CF-CFTR, Diagnostic, CF
0051640 Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication Cystic Fibrosis, CFTR FGA, Diagnostic, CF
2013661 Cystic Fibrosis (CFTR), 165 Pathogenic Variants   Cystic Fibrosis, CF VAR, CF, carrier screening
2013662 Cystic Fibrosis (CFTR), 165 Pathogenic Variants, Fetal   Cystic Fibrosis, CF VAR FE, CF
2013663 Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing   Cystic Fibrosis, CF VAR SEQ, CF
2013664 Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing and Reflex to Deletion/Duplication   Cystic Fibrosis, CFVAR COMP, CF
CystineCystine, CYS PAN CSNU1 CSNU3 Cystinuria Cystinuria, Type I Cystinuria, Type II Cystinuria, Type III SLC3A1 Neutral and basic amino acid transport protein rBAT SLC7A9 B(0,+)-type amino acid transporter 1,QNT CYS U CSNU1 CSNU3 Cystinuria Cystinuria,
0081105 Cystinuria Panel (Arginine, Cystine, Lysine, Ornithine), Urine   Cystine, CYS PAN CSNU1 CSNU3 Cystinuria Cystinuria, Type I Cystinuria, Type II Cystinuria, Type III SLC3A1 Neutral and basic amino acid transport protein rBAT SLC7A9 B(0,+)-type amino acid transporter 1
0081106 Cystine Quantitative, Urine   Cystine, QNT CYS U CSNU1 CSNU3 Cystinuria Cystinuria, Type I Cystinuria, Type II Cystinuria, Type III SLC3A1 Neutral and basic amino acid transport protein rBAT SLC7A9 B(0,+)-type amino acid transporter 1
Cytochrome P450Cytochrome P450, CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP3A4, CYP3A5, pharmacogenetics, PGX, clopidogrel (Plavix), antidepressants, voriconazole, protein pump inhibitors (PPIs), omeprazole,warfarin, Coumadin, phenytoin, sulfonylureas, glimepiride, gliclazide, glibenclamide, tolbutamide, antipscyhotics, atomoxetine, tramadol, codeine, oxycodone, tamoxifen, zuclopenthixol, tropisetron, felcainide, metoprolol, propafenone, tacrolimus
3001524 Cytochrome P450 Genotyping Panel (includes variants covered in the 2C19GENO, 2C8/2C9, 2D6GENO, 3A4/3A5) Cytochrome P450, CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP3A4, CYP3A5, pharmacogenetics, PGX
3001508 CYP2C19 Cytochrome P450, clopidogrel (Plavix), antidepressants, voriconazole, protein pump inhibitors (PPIs), omeprazole, pharmacogenetics, PGX
3001501 CYP2C8 and CYP2C9 Cytochrome P450, warfarin, Coumadin, phenytoin, sulfonylureas, glimepiride, gliclazide, glibenclamide, tolbutamide, pharmacogenetics, PGX
3001513 CYP2D6 Cytochrome P450, antidepressants, antipscyhotics, atomoxetine, tramadol, codeine, oxycodone, tamoxifen, zuclopenthixol, tropisetron, felcainide, metoprolol, propafenone, pharmacogenetics, PGX
3001518 CYP3A4 and CYP3A5 Cytochrome P450, tacrolimus, pharmacogenetics, PGX
Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form)Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form), EDS6 Ehlers-Danlos Syndrome, Kyphoscoliotic Form EDS Kyphoscoliotic Form EDS Type VI EDS VI Ehlers-Danlos Syndrome Type VI Lysyl-Hydroxylase Deficiency Ehlers-Danlos Syndrome Type VIA Nevo Syndrome PLOD1 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 EDSVI EDS6 EDS 6, connective tissue, EDS, EDS-VI FGA
0080351 Ehlers-Danlos Syndrome Type VI Screen, Urine Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form), EDS6 Ehlers-Danlos Syndrome, Kyphoscoliotic Form EDS Kyphoscoliotic Form EDS Type VI EDS VI Ehlers-Danlos Syndrome Type VI Lysyl-Hydroxylase Deficiency Ehlers-Danlos Syndrome Type VIA Nevo Syndrome PLOD1 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 EDSVI EDS6 EDS 6, connective tissue
0080342 Pyridinoline and Deoxypyridinoline by HPLC   Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form), PYD & DPD
EpilepsyEpilepsy, CHILD EPIL, ADSL, CACNA1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DYRK1A, EEF1A2, EPM2A, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, IQSEC2, KANSL1, KCNT1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PNKP, POLG, PPT1, PRICKLE1, SCN1A, SCN1B, SCN2A, SLC2A1, SLC6A8, SLC9A6, TBC1D24, TCF4, TPP1, UBE3A, WDR45, ZEB2, INFANT EPIL, ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP6AP2, CACNA1A, CDKL5, CHD2, CHRNA7, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, DNM1, DYRK1A, EEF1A2, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GRIN1, GRIN2A, GRIN2B, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NR2F1, NRXN1, PCDH19, PIGA, PIGO, PIGV, PNKP, PNPO, POLG, PPT1, PRRT2, QARS, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2
2007545 Childhood-Onset Epilepsy Panel, Sequencing and Deletion/Duplication Additional Technical Information Epilepsy, CHILD EPIL, ADSL, CACNA1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DYRK1A, EEF1A2, EPM2A, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, IQSEC2, KANSL1, KCNT1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PNKP, POLG, PPT1, PRICKLE1, SCN1A, SCN1B, SCN2A, SLC2A1, SLC6A8, SLC9A6, TBC1D24, TCF4, TPP1, UBE3A, WDR45, ZEB2
2007535 Infantile-Onset Epilepsy Panel, Sequencing and Deletion/Duplication Additional Technical Information Epilepsy, INFANT EPIL, ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP6AP2, CACNA1A, CDKL5, CHD2, CHRNA7, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, DNM1, DYRK1A, EEF1A2, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GRIN1, GRIN2A, GRIN2B, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NR2F1, NRXN1, PCDH19, PIGA, PIGO, PIGV, PNKP, PNPO, POLG, PPT1, PRRT2, QARS, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2
2013352 Pyridoxine-Dependent Epilepsy Panel, Serum or Plasma   Epilepsy,  
2013355 Pyridoxine-Dependent Epilepsy Panel, Urine   Epilepsy,  
ExomeExome, EXOSEQ PRO, EXOME SEQ
2006336 Exome Sequencing, Proband   Exome, EXOSEQ PRO
2006332 Exome Sequencing, Trio Exome, EXOME SEQ
3001457 Exome Reanalysis (Originally Test at ARUP - No Specimen Required) Exome,  
Fabry DiseaseFabry Disease, Fabry Disease
2003204 Alpha-Galactosidase, Serum   Fabry Disease,  
Factor V LeidenFactor V Leiden, APC R, Venous thrombosis, Thromboembolism, Thrombophilia, clotting, FACV, F5 R2, A4070G
0030192 APC Resistance Profile with Reflex to Factor V Leiden Factor V Leiden, APC R, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
0097720 Factor V Leiden (F5) R506Q Mutation Factor V Leiden, FACV, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
Factor XIII (F13A1) V34L VariantFactor XIII (F13A1) V34L Variant, FAC 13 MUT, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
2003220 Factor XIII (F13A1) V34L Variant (assess thrombotic risk in Caucasians) Factor XIII (F13A1) V34L Variant, FAC 13 MUT, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
Familial Adenomatous PolyposisFamilial Adenomatous Polyposis, FAP Panel, Familial Adenomatious Polyposis familial cancer, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer, APC FGS, MUTYH, FGS, MYH, MUTYH, MAP, Gardner, Turcot
2004915 Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations Familial Adenomatous Polyposis, FAP Panel, Familial Adenomatious Polyposis familial cancer, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer, MUTYH, MAP, Gardner, Turcot
2004863 Familial Adenomatous Polyposis (APC) Sequencing   Familial Adenomatous Polyposis, APC FGS, Colorectal Cancer, colon cancer, CRC, polyps, Familial Adenomatious Polyposis FAP, familial cancer, Gardner, Turcot
2006191 MUTYH-Associated Polyposis (MUTYH) Sequencing   Familial Adenomatous Polyposis, MUTYH, FGS, MYH, MAP
Familial DysautonomiaFamilial Dysautonomia, IKBKAP, Jewish Genetic Disease, Ashkenazi Jewish
0051463 Dysautonomia, Familial (IKBKAP), 2 Variants Familial Dysautonomia, IKBKAP, Jewish Genetic Disease, Ashkenazi Jewish
Familial HypercholesterolemiaAPOB, LDLR, LDLRAP1, PCSK9, FH, familial defective apoB, heterozygous familial hypercholesterolemia (HeFH), homozygous familial hypercholesterolemia (HoFH)/span>
3002110 Familial Hypercholesterolemia Panel, Sequencing APOB, LDLR, LDLRAP1, PCSK9, FH, familial defective apoB, heterozygous familial hypercholesterolemia (HeFH), homozygous familial hypercholesterolemia (HoFH)
Familial Mediterranean Fever (MEFV)Familial Mediterranean Fever (MEFV), FMF FGS, DNA
2002658 Familial Mediterranean Fever (MEFV) Sequencing Familial Mediterranean Fever (MEFV), FMF FGS, DNA
Familial Mutation TestingFamilial Mutation Testing, SEQ FSM, SEQ FSM FE, Known mutation, family study, mutation specific testing, carrier detection, target analysis, familial mutation, family-specific mutation, prenatal, amnio, amniotic fluid, chorionic villi, CVS, cultured cells
2001961 Familial Mutation, Targeted Sequencing

The following genes are available:
ACADVL, ACADM, ACVRL1, APC, ASS1, ATP7A, BMPR1A, BMPR2, BTD, CCM1, CCM2, CCM3, CDKL5, CFTR, COL4A5, CYP1B1, ENG, F8, F9, FBN1, G6PD, GALT, GJB2; HBA1, HBA2, HBB, INSR, LMNA, MECP2,MEFV, MEN1, MLH1, MSH2; MSH6, MUTYH, MYH3, NF1, OTC, PLOD1, PMS2; PRSS1, PTEN, PTPN11, RASA1, RET, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SMAD4, SPRED1, SPINK1, SOS1, STK11, TACI, TGFBR1, TGFBR2, UBE3A, VHL, VWF

 Familial Mutation Testing, SEQ FSM
2001980 Familial Mutation, Targeted Sequencing, Fetal   Familial Mutation Testing, SEQ FSM FE, Known mutation, family study, mutation specific testing, carrier detection, target analysis, familial mutation, family-specific mutation, prenatal, amnio, amniotic fluid, chorionic villi, CVS, cultured cells
Familial Transthyretin Amyloidosis (TTR)Familial Transthyretin Amyloidosis (TTR),  
2014035 Familial Transthyretin Amyloidosis (TTR) Familial Transthyretin Amyloidosis (TTR),  
Fanconi Anemia Group CFanconi Anemia Group C, FANCC, Jewish, Ashkenazi, Fanconi's, Fanconis, carrier testing, DNA
0051468 Fanconi Anemia Group C, (FANCC), 2 Variants Fanconi Anemia Group C, FANCC, Jewish, Ashkenazi, Fanconi's, Fanconis, carrier testing, DNA
Fatty Acids
3003086 Fatty Acids Profile, Essential in Red Blood Cells   Fatty Acids, FA PRO RBC
2013518 Fatty Acids Profile, Essential Serum or Plasma   Fatty Acids, FA PRO SP
FISH (Constitutional)—Aneuploidy PanelsFISH (Constitutional)—Aneuploidy Panels, FISHANEU, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, newborn, FISHANEU, prenatal, CVS, FISHCVS, AF F RFLX, Array, CHR, karyotype, prenatal, amnio, amniocytes, amniotic fluid, Insight, PN FISH
0040208 Aneuploidy Panel by FISH (13, 18, 21, X, & Y—newborn whole blood) FISH (Constitutional)—Aneuploidy Panels, FISHANEU, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, newborn
0040203 Chorionic Villus, FISH (13, 18, 21, X, & Y—CVS) FISH (Constitutional)—Aneuploidy Panels, FISHCVS, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, prenatal, CVS
2011130 Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray FISH (Constitutional)—Aneuploidy Panels, AF F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes
2002297 Chromosome FISH, Prenatal (13, 18, 21, X, & Y—Amniotic Fluid) FISH (Constitutional)—Aneuploidy Panels, CHR FISHP, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, prenatal, amnio, amniotic fluid, Insight, PN FISH
2011131 Chromosome FISH, CVS with Reflex to Chromosome Analysis or Genomic Microarray FISH (Constitutional)—Aneuploidy Panels, CVS F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes
FISH (Constitutional)—Aneuploidy Panels with Reflex TestingFISH (Constitutional)—Aneuploidy Panels with Reflex Testing, AF F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes, CVS F RFLX
2011130 Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray FISH (Constitutional)—Aneuploidy Panels with Reflex Testing, AF F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes
2011131 Chromosome FISH, CVS with Reflex to Chromosome Analysis or Genomic Microarray FISH (Constitutional)—Aneuploidy Panels with Reflex Testing, CVS F RFLX, Array, CHR, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocytes
FISH (Constitutional)—Individual Metaphase ProbesFISH (Constitutional)—Individual Metaphase Probes, D15S11, D5S23; D5S721, Tuple-1; Tuple; Hira; VCFS, KAL; KAL1, LIS; LIS1, Shank3; shank; 22qtel, PWS; D15S10, SHMT1; TOP3; FL11; LLGL1, icthyosis, ELN; LIMK1; D7S613, WHSC1, AS; D15S10
2002299 Chromosome FISH, Metaphase—15q11.2-13 duplication (15q11.2-13) FISH (Constitutional)—Individual Metaphase Probes, D15S11, D15S10
2002299 Chromosome FISH, Metaphase—Cri-du-chat (5p-) syndrome (5p15.2)   FISH (Constitutional)—Individual Metaphase Probes, D5S23; D5S721
2002299 Chromosome FISH, Metaphase—DiGeorge/Velocardiofacial (VCF) syndrome (22q11.2)   FISH (Constitutional)—Individual Metaphase Probes, Tuple-1; Tuple; Hira; VCFS
2002299 Chromosome FISH, Metaphase—Kallmann syndrome (Xp22.3)   FISH (Constitutional)—Individual Metaphase Probes, KAL; KAL1
2002299 Chromosome FISH, Metaphase—Miller-Dieker (Lisencephaly) syndrome (17p13.3)   FISH (Constitutional)—Individual Metaphase Probes, LIS; LIS1
2002299 Chromosome FISH, Metaphase—Phelan McDermid (22qter) syndrome (22q13.3)   FISH (Constitutional)—Individual Metaphase Probes, Shank3; shank; 22qtel
2002299 Chromosome FISH, Metaphase—Prader-Willi syndrome (15q11.2-13)   FISH (Constitutional)—Individual Metaphase Probes, PWS; D15S10
2002299 Chromosome FISH, Metaphase—SHOX (Xp22.3)   FISH (Constitutional)—Individual Metaphase Probes,  
2002299 Chromosome FISH, Metaphase—Smith-Magenis syndrome (17p11.2)   FISH (Constitutional)—Individual Metaphase Probes, SHMT1; TOP3; FL11; LLGL1
2002299 Chromosome FISH, Metaphase—SRY/male detection (Yp11.3)   FISH (Constitutional)—Individual Metaphase Probes,  
2002299 Chromosome FISH, Metaphase—Steroid sulfatase deficiency (STS) (Xp22.3)   FISH (Constitutional)—Individual Metaphase Probes, icthyosis
2002299 Chromosome FISH, Metaphase—Williams (elastin) syndrome (7q11.23)   FISH (Constitutional)—Individual Metaphase Probes, ELN; LIMK1; D7S613
2002299 Chromosome FISH, Metaphase—Wolf-Hirschhorn (4p-) syndrome (4p16.3)   FISH (Constitutional)—Individual Metaphase Probes, WHSC1
2002299 Chromosome FISH, Metaphase—Yq12   FISH (Constitutional)—Individual Metaphase Probes,  
2002299 Chromosome FISH, Metaphase—Angelman syndrome (15q11.2-13)   FISH (Constitutional)—Individual Metaphase Probes, AS; D15S10
FISH (Constitutional)—Individual Interphase ProbesFISH (Constitutional)—Individual Interphase Probes, FISH (Constitutional)—Individual Interphase Probes
2002298 Chromosome FISH, Interphase—X centromere   FISH (Constitutional)—Individual Interphase Probes,  
2002298 Chromosome FISH, Interphase—Y centromere   FISH (Constitutional)—Individual Interphase Probes,  
Fragile XFragile X, FRAG X PCR, Amenorrhea, Neurocognitive Impairment, mental retardation, X-linked, developmental delay, autism, PDD, ASD, premature ovarian failure, ataxia, FraX, FX PCR FE, known mutation, family study, mutation specific testing, target analysis, familial mutation, family-specific mutation, prenatal, amnio, amniotic fluid, chorionic villi, CVS, cultured cells, X-linked
2009033 Fragile X (FMR1) with Reflex to Methylation Analysis Fragile X, FRAG X PCR, Amenorrhea, Neurocognitive Impairment, mental retardation, X-linked, developmental delay, autism, PDD, ASD, premature ovarian failure, ataxia, FraX
2009034 Fragile X (FMR1) with Reflex to Methylation Analysis, Fetal   Fragile X, FX PCR FE, known mutation, family study, mutation specific testing, target analysis, familial mutation, family-specific mutation, prenatal, amnio, amniotic fluid, chorionic villi, CVS, cultured cells, X-linked, FraX
G6PD DeficiencyG6PD Deficiency, G6PD AFRIC, Hemolytic Anemias
2007163 Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing Additional Technical Information G6PD Deficiency, G6PD AFRIC, Hemolytic Anemias
0051684 Glucose-6-Phosphate Dehydrogenase (G6PD), DNA Mutation, African Alleles (A376G, G202A)   G6PD Deficiency, G6PD AFRIC, Hemolytic Anemias
GalactosemiaGalactosemia, G1PUT Galactosemia Classic Galactosemia Galactose-1-Phosphate Uridyltransferase Deficiency GALT Deficiency Duarte Variant Galactosemia GALT Galactose-1-phosphate uridylyltransferase, GALTPAN Galactosemia, GALTDNA, Galactosemia, GAL1PRBC Galactosemia, GALT FGA, Galactosemia, GALTDNA FE
3001790 Galactose-1-Phosphate Enzyme Activity   Galactosemia, G1PUT Galactosemia Classic Galactosemia Galactose-1-Phosphate Uridyltransferase Deficiency GALT Deficiency Duarte Variant Galactosemia GALT Galactose-1-phosphate uridylyltransferase
0051175 Galactosemia, (GALT) Enzyme Activity & 9 Mutations Galactosemia, GALTPAN Galactosemia Classic Galactosemia Galactose-1-Phosphate Uridyltransferase Deficiency GALT Deficiency Duarte Variant Galactosemia GALT Galactose-1-phosphate uridylyltransferase
0051176 Galactosemia, (GALT) 9 Mutations   Galactosemia, GALTDNA, Galactosemia
0081296 Galactose-1-Phosphate in Red Blood Cells   Galactosemia, GAL1PRBC Galactosemia Classic Galactosemia Galactose-1-Phosphate Uridyltransferase Deficiency GALT Deficiency Duarte Variant Galactosemia GALT Galactose-1-phosphate uridylyltransferase
2006697 GALT (Galactosemia) Sequencing Additional Technical Information Galactosemia, GALT FGA, Galactosemia
0051270 Galactosemia, (GALT ) 9 Mutations, Fetal   Galactosemia, GALTDNA FE, Galactosemia
Gastrointestinal CancerGastrointestinal Cancer, BRAF RFLX, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers, BRAF RFLX, MLH1PCR, MSI, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch, MSI PCR, FAP Panel, Familial Adenomatious Polyposis familial cancer, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer, BMPR1A FGA, JPS, SMAD4, Juvenile Polyposis, Peutz-Jeghers, Li-Fraumeni APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, diffuse gastric cancer, familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel, APC FGS, Colorectal Cancer, colon cancer, CRC, polyps, Familial Adenomatious Polyposis FAP, familial cancer, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch,
0051750 BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation Gastrointestinal Cancer, BRAF RFLX, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers
2002499 MLH1 Promoter Methylation, Paraffin Additional Technical Information Gastrointestinal Cancer, MLH1PCR, Colorectal Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Tumor Markers, Lynch
0049302 Mismatch Repair by Immunohistochemistry Additional Technical Information Gastrointestinal Cancer, MSI, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
0051740 Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR Additional Technical Information Gastrointestinal Cancer, MSI PCR, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers, MSI, MLH1, MSH2, MSH6, PMS2, mismatch repair
2005270 Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation Additional Technical Information Gastrointestinal Cancer, MSI MLH1, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
2004915 Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations Gastrointestinal Cancer, FAP Panel, Familial Adenomatious Polyposis familial cancer, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer, MUTYH, MAP, Gardner, Turcot
2004863 Familial Adenomatous Polyposis (APC) Sequencing   Gastrointestinal Cancer, APC FGS, Colorectal Cancer, colon cancer, CRC, polyps, Familial Adenomatious Polyposis FAP, familial cancer, Gardner, Turcot
2006191 MUTYH-Associated Polyposis (MUTYH) Sequencing   Gastrointestinal Cancer, MUTYH, FGS, MYH, MAP
2004992 Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication   Gastrointestinal Cancer, BMPR1A FGA, JPS, SMAD4
2013449 Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication Gastrointestinal Cancer, GICAN PAN, APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, colon, colorectal, cancer, gastrointestinal, stomach, GI cancer, polyp, FAP, polyposis, diffuse gastric, Lynch, HNPCC, MAP, Juvenile Polyposis, Peutz-Jeghers, Li-Fraumeni APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, MUTYH, PTEN, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, diffuse gastric cancer, familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation, AXIN2, CHEK2, MSH3, NTHL1, PMS2, POLD1, POLE, Gastrointestinal Cancer, CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel, HBOC, ovarian cancer, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PHOX2B, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1
2012032 Hereditary Cancer Panel, Sequencing and Deletion/Duplication Gastrointestinal Cancer, CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel, HBOC, ovarian cancer, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PHOX2B, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication Gastrointestinal Cancer, MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication Additional Technical Information Gastrointestinal Cancer, MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication Additional Technical Information Gastrointestinal Cancer, MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication Additional Technical Information Gastrointestinal Cancer, PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Gastrointestinal Cancer, TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2008398 Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication Gastrointestinal Cancer, STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation
Gaucher DiseaseGaucher Disease, Glucocerebrosidase Deficiency, Glucosylceramidase Deficiency, Ashkenazi Jewish, GBA, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase
3001648 Gaucher Disease (GBA) Sequencing Gaucher Disease, Glucocerebrosidase Deficiency, Glucosylceramidase Deficiency, Ashkenazi Jewish
0051438 Gaucher Disease (GBA), 8 Variants   Gaucher Disease, GBA, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase, Ashkenazi Jewish
2014459 Gaucher Disease (GBA), Enzyme Activity in Leukocytes   Gaucher Disease, Gaucher GBA glucocerebrosidase glucosidase
Genomic MicroarrayGenomic Microarray, CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy, intellectual disability, developmental disability, IDD, ID
2003414 Cytogenomic SNP Microarray Genomic Microarray, CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy, intellectual disability, developmental disability, IDD, ID
2006267 Cytogenomic SNP Microarray Buccal Swab Genomic Microarray, CMA BUCCAL, CMA SNP, array, CGH, aCGH, CNV, mental retardation, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy, cheek swab, intellectual disability, developmental disability, IDD, ID
2009353 Cytogenomic SNP Microarray with Five-Cell Chromosome Study, Peripheral Blood Genomic Microarray, SNP CHR PB, CMA SNP, array, CGH, aCGH, CNV, mental retardation, intellectual and developmental disability, IDD, ID, pervasive developmental delay, congenital anomalies, MCA, birth defects, autism, PDD, ASD, CMA, snip, LOH, UPD, uniparental disomy
2006325 Cytogenomic SNP Microarray—Oncology Additional Technical Information Genomic Microarray, CMA ONC ALL, Bcell, B-cell, b cell, T-cell, Tcell, T Cell, B-ALL, CDKN2A/B, BTG1, IKZF1, EBF1, UPD 9p, Myelodysplastic, MDS, Myeloproliferative, MPD, 5q-; -7 or 7q-,+8; 20q-, LOH, UPD 7q, UPD 11q, UPD 17p, CLL, P53, Chronic lymphocytic leukemia
2002366 Cytogenomic SNP Microarray—Fetal Genomic Microarray, ARRAY FE, array, CGH, aCGH, CNV, ultrasound anomalies, birth defects, amnio, amniotic fluid, CVS, villi, cultured cells
2005633 Genomic SNP Microarray, Products of Conception Genomic Microarray, ARRAY POC, conception, amnio, amniotic fluid, CVS, villi, cultured cells
2010795 Cytogenomic Molecular Inversion Probe Array, FFPE Tissue - Products of Conception Genomic Microarray, ARRAY POC, conception, amnio, amniotic fluid, CVS, villi, cultured cells, parafin-embedded, formalin-fixed, tissue block,
GlutarylcarnitineGlutarylcarnitine, C5DC URINE GA1 Glutaricacidemia Type 1 GAI Glutaricaciduria Type I GCDH Glutaryl-CoA dehydrogenase, mitochondrial Glutaric Acidemia type I Glutaric Acidemia type 1 Glutaric Aciduria type 1 Glutaric Aciduria type I GA 1 GA I
2001510 Glutarylcarnitine, Quantitative, Urine   Glutarylcarnitine, C5DC URINE GA1 Glutaricacidemia Type 1 GAI Glutaricaciduria Type I GCDH Glutaryl-CoA dehydrogenase, mitochondrial Glutaric Acidemia type I Glutaric Acidemia type 1 Glutaric Aciduria type 1 Glutaric Aciduria type I GA 1 GA I
Hearing LossHearing Loss, HL PANEL, m.1555A>G, m.7445A>G, Connexin 26, Connexin 30, CX26SEQ, Hearing Loss, GJB6 DEL, Hearing Loss, CX26SEQ, Hearing Loss, GJB6 DEL, Hearing Loss,
2001992 Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial DNA 2 Mutations Hearing Loss, HL PANEL, m.1555A>G, m.7445A>G, Connexin 26, Connexin 30, CX26SEQ, Hearing Loss, GJB6 DEL, Hearing Loss, CX26SEQ, Hearing Loss, GJB6 DEL, Hearing Loss, EHL PANEL, hearing loss, nonsyndromic, syndromic, nonsyndromic hearing loss, syndromic hearing loss, Connexin 26, Connexin 30, Usher, Wolfram, 3MC, ACTG1, ADGRV1, CCDC50, CDH23, CEACAM16, CLDN14, CLRN1, COCH, COL11A2, CRYM, DIAPH1, DNMT1, DSPP, ESPN, ESRRB, EYA4, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GSDME, HARS2, HSD17B4, ILDR1, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MASP1, MT-RNR1, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15, PDZD7, PJVK, POU3F4, POU4F3, RDX, SIX1, SLC26A4, SLC26A5, SMPX, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1, WHRN
0051374 Connexin 26 (GJB2) Sequencing Hearing Loss, CX26SEQ, Hearing Loss
2001956 Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions Additional Technical Information Hearing Loss, GJB6 DEL, Hearing Loss
2008803 Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication Hearing Loss, EHL PANEL, hearing loss, nonsyndromic, syndromic, nonsyndromic hearing loss, syndromic hearing loss, Connexin 26, Connexin 30, Usher, Wolfram, 3MC, ACTG1, ADGRV1, CCDC50, CDH23, CEACAM16, CLDN14, CLRN1, COCH, COL11A2, CRYM, DIAPH1, DNMT1, DSPP, ESPN, ESRRB, EYA4, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GSDME, HARS2, HSD17B4, ILDR1, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MASP1, MT-RNR1, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15, PDZD7, PJVK, POU3F4, POU4F3, RDX, SIX1, SLC26A4, SLC26A5, SMPX, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1, WHRN
HemoglobinopathiesHemoglobinopathies, HB CASCADE, BG FGA, Beta thalassemia, beta globin, HBB, HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin, ALPHA THAL, Hemoglobinopathies, A-gamma, G-gamma, HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin,LEPORE, Beta globin, delta globin, beta thalassemia, Hb Lepore-Washington-Boston, Hb Lepore-Baltimore, Hb Lepore-Hollandia, SCKL SICKLE, HEMOX,Unstable Hemoglobinopathies, Hemolytic Anemias, CARBOXY HB, HGB UNSTAB, LEPORE, Beta globin, delta globin, beta thalassemia, Hb Lepore-Washington-Boston, Hb Lepore-Baltimore, Hb Lepore-Hollandia
2005792 Hemoglobin Evaluation Reflexive Cascade Hemoglobinopathies, HB CASCADE
3000894 Hereditary Hemolytic Anemia Cascade Hemoglobinopathies, HHACASCADE
0050578 Beta Globin (HBB) Gene Sequencing Hemoglobinopathies, β thalassemia, hemoglobinopathy, beta thalassemia
2010117 Beta Globin (HBB) Sequencing and Deletion/Duplication Hemoglobinopathies, BG FGA, Beta thalassemia, beta globin, HBB, β thalassemia, hemoglobinopathy
3003144 Deletion/Duplication Analysis by MLPA   ABCD1, ACADVL, ACVRL1, APC, ATP7A, BMPR1A, BRCA1, BRCA2, CFTR, COL4A5, ENG, F8, F9, FBN1, HBB, MECP2, MEN1, MLH1, MSH2, MSH6, NF1, OTC, PKD1, PKD2, PLOD1, PMS2, PRSS1, PTEN, RASA1, SDHB, SDHC, SDHD, SLC22A5, SHOX, SMAD4, SPINK1, SPRED1, STK11, TP53, VHL
0050388 Beta Globin (HBB) Sequencing, Fetal Hemoglobinopathies, β thalassemia, hemoglobinopathy, beta thalassemia
2011708 Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication Hemoglobinopathies, AG FGA, alpha thalassemia
3003651 Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring HBA DDCS, A globin, Alpha globin gene analysis, Alpha globin mutations
2011622 Alpha Globin (HBA1 and HBA2) Deletion/Duplication Hemoglobinopathies, HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin
3003656 Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring, Fetal HBA DDCSFE, A globin, Alpha globin gene analysis, Alpha globin mutations
3001957 Gamma Globin (HBG1 and HBG2) Sequencing Hemoglobinopathies, A-gamma, G-gamma
0050610 Hemoglobin Evaluation with Reflex to Electrophoresis and/or RBC Solubility Hemoglobinopathies,  
0050520 Hemoglobin S, Evaluation with Reflex to RBC Solubility   Hemoglobinopathies, SCKL, hemoglobin S, sickle cell, HB S, Hgb S
2013399 Hemoglobin S, Sickle Solubility   Hemoglobinopathies, SICKLE, hemoglobin S, sickle cell, HB S, Hgb S
0049090 Heinz Body Stain   Hemoglobinopathies, Unstable Hemoglobinopathies, Hemolytic Anemias
0049020 Hemoglobin, Unstable   Hemoglobinopathies, HGB UNSTAB
Hemophilia AHemophilia A, F8 COMP, Factor VIII, Factor 8, bleeding, classic hemophilia,
2001614 Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication Hemophilia A, F8 COMP, Factor VIII, Factor 8, bleeding, classic hemophilia
2001759 Hemophilia A (F8) 2 Inversions Hemophilia A, F8 INV, Factor VIII, Factor 8, bleeding, classic hemophilia
2001747 Hemophilia A (F8) Sequencing Hemophilia A, F8 FGS, Factor VIII, Factor 8, bleeding, classic hemophilia
2001755 Hemophilia A (F8) 2 Inversions, Fetal Hemophilia A, F8 INV FE, Factor VIII, Factor 8, bleeding, classic hemophilia
Hemophilia BHemophilia B, F9 FGS, Factor IX, Factor 9, bleeding, Christmas
2001578 Hemophilia B (F9) Sequencing Hemophilia B, F9 FGS, Factor IX, Factor 9, bleeding, Christmas
HemophiliasHemophilias, F8 COMP, Factor VIII, Factor 8, bleeding, classic hemophilia, F8 INV, VWF2A SEQ, Christmas disease,
2001614 Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication Hemophilias, F8 COMP, Factor VIII, Factor 8, bleeding, classic hemophilia
2001759 Hemophilia A (F8) 2 Inversions Hemophilias, F8 INV, Factor VIII, Factor 8, bleeding, classic hemophilia
2001747 Hemophilia A (F8) Sequencing Hemophilias, F8 FGS, Factor VIII, Factor 8, bleeding, classic hemophilia
2001755 Hemophilia A (F8) 2 Inversions, Fetal Hemophilias, F8 INV FE, Factor VIII, Factor 8, bleeding, classic hemophilia
2010494 Hemophilia B (F9) Sequencing and Deletion/Duplication Hemophilia B, Christmas disease, F9, Factor IX
2001578 Hemophilia B (F9) Sequencing Hemophilias, F9 FGS, Factor IX, Factor 9, bleeding, Christmas
2005480 von Willebrand Disease, Type 2A (VWF) Sequencing Exon 28 with Reflex to 9 Exons Hemophilias, VWF2A SEQ, VWD, bleeding
2005494 von Willebrand Disease, Type 2N (VWF) Sequencing   Hemophilias, VWF2N SEQ, VWD, bleeding
2005490 von Willebrand Disease, Type 2M (VWF) Sequencing   Hemophilias, VWF2M SEQ, VWD, bleeding
2005486 von Willebrand Disease, Type 2B (VWF) Sequencing   Hemophilias, VWF2B SEQ, VWD, bleeding
2005476 von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations   Hemophilias, GP1BA SEQ, VWD, bleeding
Hereditary HemochromatosisHereditary Hemochromatosis, HFE PCR, HFE-associated hemochromatosis, HFE-HHC, iron overload
0055656 Hereditary Hemochromatosis Mutation Detection (C282Y, H63D, & S65C) Hereditary Hemochromatosis, HFE PCR, HFE-associated hemochromatosis, HFE-HHC, iron overload
Hereditary Hemolytic AnemiaAK1, ALDOA, ANK1, CDAN1, CYB5R3, EPB41, EPB42, G6PD, GCLC, GPI, GSR, GSS, HK1, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, SEC23B, SLC4A1, SLCO1B1, SLCO1B3, SPTA1, SPTB, TPI1, UGT1A1, UGT1A6, UGT1A7
3000894 Hereditary Hemolytic Anemia Cascade AK1 HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY ALDOA GLYCOGEN STORAGE DISEASE XII ANK1 SPHEROCYTOSIS, TYPE 1 CDAN1 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA CYB5R3 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE EPB41 ELLIPTOCYTOSIS 1 EPB42 SPHEROCYTOSIS, TYPE 5 G6PD NONSPHEROCYTIC HEMOLYTIC ANEMIA DUE TO G6PD DEFICIENCY GCLC HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY GPI NONSPHEROCYTIC HEMOLYTIC ANEMIA DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GSR HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY GSS HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY HK1 NONSPHEROCYTIC HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY NT5C3A HEMOLYTIC ANEMIA DUE TO URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY PFKM GLYCOGEN STORAGE DISEASE VII PGK1 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY PIEZO1 DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA PKLR PYRUVATE KINASE DEFICIENCY SEC23B CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II SLC4A1 SPHEROCYTOSIS, TYPE 4 OVALOCYTOSIS, SOUTHEAST ASIAN TYPE CRYOHYDROCYTOSIS SLCO1B1 HYPERBILIRUBINEMIA, ROTOR TYPE SPTA1 ELLIPTOCYTOSIS 2 PYROPOIKILOCYTOSIS SPHEROCYTOSIS, TYPE 3 SPTB SPHEROCYTOSIS, TYPE 2 ELLIPTOCYTOSIS 3 TPI1 HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY UGT1A1 GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME, TYPES I AND II HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL UGT1A6 UGT1A7
2012052 Hereditary Hemolytic Anemia Panel, Sequencing AK1, ALDOA, ANK1, CDAN1, CYB5R3, EPB41, EPB42, G6PD, GCLC, GPI, GSR, GSS, HK1, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, SEC23B, SLC4A1, SLCO1B1, SLCO1B3, SPTA1, SPTB, TPI1, UGT1A1, UGT1A6, UGT1A7
Hereditary Hemorrhagic Telangiectasia (HHT)Hereditary Hemorrhagic Telangiectasia (HHT), HHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4, EPHB4, vascular malformation, HHT REFLEX, hereditary hemorrhagic telangiectasia, HHT FGA, HHT FGS, SMAD4 FGA, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis, SMAD4 SEQ, JP/HHT, BMPR1A, JPS, Myhre,
2009337 Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication   Hereditary Hemorrhagic Telangiectasia (HHT), HHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4, EPHB4, vascular malformation
2010015 Telangiectasia Syndrome (BMP9/GDF2) Sequencing Hereditary Hemorrhagic Telangiectasia (HHT), BMP9 FGS, capillary malformations, HHT, HHT5
2007384 Vascular Malformations Panel, Sequencing and Deletion/Duplication, 10 Genes Hereditary Hemorrhagic Telangiectasia (HHT), VACS PANEL, RASA1, ENG, ACVRL1/ALK1, SMAD4, PTEN, TIE2/TEK, GLMN, KRIT1/CCM1, CCM2, CCM3, capillary malformation, telangiectasia, arteriovenous malformation, AVM, HHT, hereditary hemorrhagic telangiectasia, Parkes Weber, CM-AVM, Multiple cutaneous and mucosal, VMCM, Proteus, PS, cavernous, venous, glomuvenous, GVM, BMPR2, CAV1, CCBE1, CCM2, EIF2AK4, ELMO2, EPHB4, FAT4, FLT4, FOXC2, GATA2, GDF2, GJC2, KCNK3, PDCD10, PIEZO1, PIK3CA, SMAD9, SOX18, STAMBP, VEGFC
Hereditary Myeloid NeoplasmsMyelodysplastic syndrome (MDS), Acute myeloid leukemia (AML)
3001842 Hereditary Myeloid Neoplasms Panel, Sequencing Additional Technical Information Myelodysplastic syndrome (MDS), Acute myeloid leukemia (AML)
Hereditary Paraganglioma-Pheochromocytoma SyndromesHereditary Paraganglioma-Pheochromocytoma Syndromes, PGL/PCC, SDHA FGS
2007167 Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel Hereditary Paraganglioma-Pheochromocytoma Syndromes, PGL/PCC
2006948 SDHB with Interpretation by Immunohistochemistry   Hereditary Paraganglioma-Pheochromocytoma Syndromes, PGL/PCC
2011461 Hereditary Paraganglioma-Pheochromocytoma (SDHA) Sequencing Additional Technical Information Hereditary Paraganglioma-Pheochromocytoma Syndromes, SDHA FGS
2007108 Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing and Deletion/Duplication Additional Technical Information Hereditary Paraganglioma-Pheochromocytoma Syndromes, PGL/PCC
2007117 Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication Additional Technical Information Hereditary Paraganglioma-Pheochromocytoma Syndromes, PGL/PCC
2007122 Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication Additional Technical Information Hereditary Paraganglioma-Pheochromocytoma Syndromes, PGL/PCC
Heterotaxy/Situs InversusKartagener syndrome, primary ciliary dyskinesia, situs inversus totalis, situs ambiguous, situs ambiguus, ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10, Kartagener syndrome
3002682 Heterotaxy and Situs Inversus Panel, Sequencing Kartagener syndrome, primary ciliary dyskinesia, situs inversus totalis, situs ambiguous, situs ambiguus
3001621 Primary Ciliary Dyskinesia Panel, Sequencing ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10, Kartagener syndrome
HLA TestingHLA Testing, HLA I NGS, HLA II NGS, HLA A NGS, HLA B NGS, HLA C NGS, HLA DRB1, HLA DQB1, HLA DPB1
3002307 HLA Class I Panel (ABC) by Next Generation Sequencing   HLA Testing, HLA A NGS
3002061 HLA Class I and II Panel (A,B,C,DRB1, DQA1, DQB1, DPB1) by Next Generation Sequencing   HLA Testing, HLA B NGS
3002062 HLA Class I and II Panel (A,B,C,DRB1, DRB345, DQA1, DQB1, DPA1, DPB1) by Next Generation Sequencing   HLA Testing, HLA C NGS
3002308 HLA Class II Panel (DRB1, DQA1 and DQB1) by Next Generation Sequencing   HLA Testing, HLA DRB1
3001389 HLA DRB 3*,4*,5*   HLA Testing, HLA DQB1
2012494 HLA-DRB1 by Next Generation Sequencing   HLA Testing, HLA DQB1
HLA-B*15:02 (Carbamazepine Hypersensitivity) GenotypingHLA-B*15:02 (Carbamazepine Hypersensitivity) Genotyping, pharmacogenetics, PGX
2012049 HLA-B*15:02 Genotyping, Carbamazepine Hypersensitivity HLA-B*15:02 (Carbamazepine Hypersensitivity) Genotyping, pharmacogenetics, PGX
HLA-B*5701 (Abacavir Sensitivity) GenotypingHLA-B*5701 (Abacavir Sensitivity) Genotyping, HLA-B5701, Pharmacogenetics (PGx), HIV Drug Resistance, HIV, Abacavir sensitivity, Ziagene, Abacavir hypersensitivity, ABC HSR
2002429 HLA-B*5701 Associated Variant Genotyping for Abacavir Sensitivity HLA-B*5701 (Abacavir Sensitivity) Genotyping, HLA-B5701, Pharmacogenetics (PGx), HIV Drug Resistance, HIV, Abacavir sensitivity, Ziagene, Abacavir hypersensitivity, ABC HSR
HLA-B*58:01 (Allopurinol Hypersensitivity) GenotypingHLA-B*58:01 (Allopurinol Hypersensitivity) Genotyping, pharmacogenetics, PGX
3001393 HLA-B*58:01 Genotyping, Allopurinol Hypersensitivity HLA-B*58:01 (Allopurinol Hypersensitivity) Genotyping, pharmacogenetics, PGX
HLA-B27 (Ankylosing Spondylitis) GenotypingHLA-B27 (Ankylosing Spondylitis) Genotyping, HLAB27 PCR, IBD
0050392 Ankylosing Spondylitis (HLA-B27) Genotyping HLA-B27 (Ankylosing Spondylitis) Genotyping, HLAB27 PCR, IBD
HoloprosencephalyHoloprosencephaly, HPE PAN, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TGIF1, ZIC2, HPE PAN FE, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TGIF1, ZIC2, CDON, FGFR1, GLI3
2008848 Holoprosencephaly Panel, Sequencing and Deletion/Duplication   Holoprosencephaly, HPE PAN, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TGIF1, ZIC2, CDON, FGFR1, GLI3
2008863 Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal Holoprosencephaly, HPE PAN FE, HPE, Nonsyndromic holoprosencephaly, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1, SHH, SIX3, TGIF1, ZIC2, CDON, FGFR1, GLI3
Huntington DiseaseHuntington Disease, HD, Huntington chorea, CAG trinucleotide repeats, HTT
0040018 Huntington Disease (HD) Mutation by PCR Huntington Disease, HD, Huntington chorea, CAG trinucleotide repeats, HTT
Insulin Resistance SyndromesInsulin Resistance Syndromes, INSR FGS Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans Insulin Receptor, Defect in, with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans IRAN Type A Donohue Syndrome Insulin Receptor Defect Leprechaunism Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities Rabson-Mendenhall Syndrome
2006274 Inherited Insulin Resistance Syndromes (INSR) Sequencing Additional Technical Information Insulin Resistance Syndromes, INSR FGS Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans Insulin Receptor, Defect in, with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans IRAN Type A Donohue Syndrome Insulin Receptor Defect Leprechaunism Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities Rabson-Mendenhall Syndrome
Juvenile PolyposisJuvenile Polyposis, BMPR1A FGA, JPS, SMAD4, Juvenile Polyposis, SMAD4 FGA, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Juvenile Polyposis, SMAD4 SEQ, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Myhre, Juvenile Polyposis
2004992 Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication   Juvenile Polyposis, BMPR1A FGA, JPS, SMAD4
Kell Antigen GenotypingKell Antigen Genotyping, KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano
3002001 Kell K/k Antigen (KEL) Genotyping Kell Antigen Genotyping, KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano
Legius SyndromeLegius Syndrome, LS FGA, SPRED1, Neurofibromatosis, LS, NF 1-like
2008347 Legius Syndrome (SPRED1) Sequencing and Deletion/Duplication Legius Syndrome, LS FGA, SPRED1
Li-Fraumeni SyndromeLi-Fraumeni Syndrome, TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Li-Fraumeni Syndrome, TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
Loeys-Dietz SyndromeLoeys-Dietz Syndrome, LDS FGS, Loeys-Dietz, aortic aneurysm, connective tissue
2002705 TGFBR1 & TGFBR2 Sequencing Loeys-Dietz Syndrome, LDS FGS, Loeys-Dietz, aortic aneurysm, connective tissue
Lynch syndrome/Non-polyposis colon cancer (HNPCC)Lynch Syndrome, BRAF RFLX, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers, MLH1PCR, Colorectal Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Tumor Markers, MSI, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch, Muir-Torre, Turcot,
0051750 BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation Lynch Syndrome, BRAF RFLX, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers
2002499 MLH1 Promoter Methylation, Paraffin Additional Technical Information Lynch Syndrome, MLH1PCR, Colorectal Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Tumor Markers
0049302 Mismatch Repair by Immunohistochemistry Additional Technical Information Lynch Syndrome, MSI, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
0051740 Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR Additional Technical Information Lynch Syndrome, MSI PCR, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers, MSI, MLH1, MSH2, MSH6, PMS2, mismatch repair
2005270 Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation Additional Technical Information Lynch Syndrome, MSI MLH1, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication Lynch Syndrome, MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication Additional Technical Information Lynch Syndrome, MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication Additional Technical Information Lynch Syndrome, MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication Additional Technical Information Lynch Syndrome, PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
Lysosomal Acid LipaseLysosomal Acid Lipase, Wolman Disease, cholesteryl ester storage disease
2012266 Lysosomal Acid Lipase Activity, Dried Blood Spot   Lysosomal Acid Lipase, Wolman Disease, cholesteryl ester storage disease
Malignant Hyperthermia SusceptibilityCACNA1S, RYR1, Malignant hyperthermia susceptibility (MHS), malignant hyperpyrexia
3002688 Malignant Hyperthermia Panel, Sequencing CACNA1S, RYR1, Malignant hyperthermia susceptibility (MHS), malignant hyperpyrexia
Marfan Syndrome and Marfan/FBN1-Related DisordersMarfan Syndrome and Marfan/FBN1-Related Disorders, FBN1 FGA, connective tissue
2005584 Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication Marfan Syndrome and Marfan/FBN1-Related Disorders, FBN1 FGA, connective tissue
2005589 Marfan Syndrome (FBN1) Sequencing   Marfan Syndrome and Marfan/FBN1-Related Disorders, FBN1 FGS, connective tissue
Medium Chain Acyl-CoA Dehydrogenase (MCAD)Medium Chain Acyl-CoA Dehydrogenase (MCAD), MCADPCR, Medium-chain acyl-coa dehydrogenase, fatty acid oxidation, MCAD deficiency, ACADM Sequencing
0051205 Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations Medium Chain Acyl-CoA Dehydrogenase (MCAD), MCADPCR, Medium-chain acyl-coa dehydrogenase, fatty acid oxidation, MCAD deficiency, ACADM
0051758 Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing Additional Technical Information Medium Chain Acyl-CoA Dehydrogenase (MCAD), MCAD FGS, Medium-chain acyl-coa dehydrogenase, fatty acid oxidation, MCAD Deficiency ACADM Sequencing
Methylenetetrahydrofolate Reductase (MTHFR)Methylenetetrahydrofolate Reductase (MTHFR), MTHFR PCR, Thrombophilia, methotrexate sensitivity, cardiovascular, C677T, A1298C
0055655 Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations Methylenetetrahydrofolate Reductase (MTHFR), MTHFR PCR, Thrombophilia, methotrexate sensitivity, cardiovascular, C677T, A1298C
Methylmalonic Acid
2005255 Methylmalonic Acid, Serum or Plasma (Metabolic Disorders) Methylmalonic Acid, MMA METD Methylmalonic Acidemia Methylmalonicaciduria Methylmalonic Aciduria MCEE-Related Methylmalonic Acidemia MMAA-Related Methylmalonic Acidemia MMAB-Related Methylmalonic Acidemia MMADHC-Related Methylmalonic Acidemia MUT-Related Methylmalonic Acidemia MCEE Methylmalonyl-CoA epimerase, mitochondrial MMAA Methylmalonic aciduria type A protein, mitochondrial MMAB Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial MMADHC Methylmalonic aciduria and homocystinuria type D protein, mitochondrial MUT Methylmalonyl-CoA mutase, mitochondrial MMA
Mitochondrial Disorders
3001959 Mitochondrial Disorders Panel (mtDNA and Nuclear Genes)    
3001965 Mitochondrial Disorders (mtDNA) Sequencing and Deletion Analysis by NGS    
MODY and Neonatal DiabetesABCC8, Diabetes mellitus, permanent neonatal 3, with or without neurologic features, Diabetes mellitus, transient neonatal 2, Hyperinsulinemic hypoglycemia, familial, 1, Hypoglycemia of infancy, leucine sensitive, APPL1, BLK, CEL, EIF2AK3, Wolcott-Rallison syndrome, FOXP3, Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, GATA4, GATA6, Pancreatic agenesis and congenital heart defects, GCK, NIDDM, late onset, Hyperinsulinemic hypoglycemia, familial, 3, Diabetes mellitus, permanent neonatal 1, HNF1A, NIDDM 2, IDDM 20, HNF1B, NIDDM, Renal cysts and diabetes syndrome, HNF4A, NIDDM, Fanconi renotubular syndrome 4, with MODY, INS, IDDM2, Diabetes mellitus, permanent neonatal, Hyperproinsulinemia, KCNJ11, Diabetes mellitus, transient neonatal, 3, Diabetes, permanent neonatal 2, with or without neurologic features, Hyperinsulinemic hypoglycemia, familial 2, KLF11, NEUROD1, NEUROG3, Diarrhea 4, malabsorptive, congenital, PAX4, Diabetes mellitus, type 2, PDX1, Pancreatic agenesis 1, RFX6, Mitchell-Riley syndrome, SLC19A2, Thiamine-responsive megaloblastic anemia syndrome, WFS1, NIDDM, Wolfram-like syndrome, AD, Wolfram syndrome 1, ZFP57, Diabetes mellitus, transient neonatal
3001593 MODY and Neonatal Diabetes Panel, Sequencing ABCC8, Diabetes mellitus, permanent neonatal 3, with or without neurologic features, Diabetes mellitus, transient neonatal 2, Hyperinsulinemic hypoglycemia, familial, 1, Hypoglycemia of infancy, leucine sensitive, APPL1, BLK, CEL, EIF2AK3, Wolcott-Rallison syndrome, FOXP3, Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, GATA4, GATA6, Pancreatic agenesis and congenital heart defects, GCK, NIDDM, late onset, Hyperinsulinemic hypoglycemia, familial, 3, Diabetes mellitus, permanent neonatal 1, HNF1A, NIDDM 2, IDDM 20, HNF1B, NIDDM, Renal cysts and diabetes syndrome, HNF4A, NIDDM, Fanconi renotubular syndrome 4, with MODY, INS, IDDM2, Diabetes mellitus, permanent neonatal, Hyperproinsulinemia, KCNJ11, Diabetes mellitus, transient neonatal, 3, Diabetes, permanent neonatal 2, with or without neurologic features, Hyperinsulinemic hypoglycemia, familial 2, KLF11, NEUROD1, NEUROG3, Diarrhea 4, malabsorptive, congenital, PAX4, Diabetes mellitus, type 2, PDX1, Pancreatic agenesis 1, RFX6, Mitchell-Riley syndrome, SLC19A2, Thiamine-responsive megaloblastic anemia syndrome, WFS1, NIDDM, Wolfram-like syndrome, AD, Wolfram syndrome 1, ZFP57, Diabetes mellitus, transient neonatal, 1
Molar PregnancyMolar Pregnancy, MOL PREG, Gestational Trophoblastic Disease
0051755 Molar Pregnancy, 16 DNA Markers   Molar Pregnancy, MOL PREG, Gestational Trophoblastic Disease
Mucolipidosis IVMucolipidosis IV, Keratan Sulfate, Quantitative by LC-MS/MS, Urine, MPS IVa, MCOLN1, Jewish Genetic, lysosomal, Ashkenazi Jewish
2012259 Keratan Sulfate, Quantitative by LC-MS/MS, Urine   Mucolipidosis IV, Keratan Sulfate, Quantitative by LC-MS/MS, Urine, MPS IVa
0051448 Mucolipidosis Type IV (MCOLN1), 2 Variants Mucolipidosis IV, MCOLN1, Jewish Genetic, lysosomal, Ashkenazi Jewish
Mucopolysaccharidoses (MPS)Mucopolysaccharidoses (MPS), MPS SCREEN Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI Hunter Syndrome Mucopolysaccharidosis Type II I2S Deficiency Iduronate 2-Sulfatase Deficiency MPS II IDS Iduronate 2-sulfatase MPSII MPS IIIA Mucopolysaccharidosis Type IIIA Sanfilippo Syndrome Type A SGSH N-sulphoglucosamine sulphohydrolase MPS III MPSIII MPS IIIB Mucopolysaccharidosis Type IIIB Sanfilippo Syndrome Type B NAGLU Alpha-N-acetylglucosaminidase MPS IIIC Mucopolysaccharidosis Type IIIC Sanfilippo Syndrome Type C HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase MPS IIID Mucopolysaccharidosis Type IIID Sanfilippo Syndrome Type D GNS N-acetylglucosamine-6-sulfatase Morquio Syndrome Type A Mucopolysaccharidosis Type IVA MPS IVA GALNS N-acetylgalactosamine-6-sulfatase MPSIV MPS IV Morquio Syndrome Type B Mucopolysaccharidosis Type IVB MPS IVB GLB2 Beta-galactosidase Arylsulfatase B Deficiency Mucopolysaccharidosis Type VI Maroteaux-Lamy Syndrome MPS VI ARSB Arylsulfatase B MPSVI Beta-Glucuronidase Deficiency Mucopolysaccharidosis Type VII Glucuronidase Deficiency MPS MPS VII Sly Syndrome GUSB Beta-glucuronidase MPSVII, MPS2 QNT S, Hunter Syndrome, Mucopolysaccharidosis Type II, I2S Deficiency, Iduronate 2-Sulfatase Deficiency, MPS II, IDS, Iduronate 2-sulfatase, MPSII
0081352 Mucopolysaccharides Electrophoresis and Quantitation, Urine Mucopolysaccharidoses (MPS), MPS SCREEN Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI Hunter Syndrome Mucopolysaccharidosis Type II I2S Deficiency Iduronate 2-Sulfatase Deficiency MPS II IDS Iduronate 2-sulfatase MPSII MPS IIIA Mucopolysaccharidosis Type IIIA Sanfilippo Syndrome Type A SGSH N-sulphoglucosamine sulphohydrolase MPS III MPSIII MPS IIIB Mucopolysaccharidosis Type IIIB Sanfilippo Syndrome Type B NAGLU Alpha-N-acetylglucosaminidase MPS IIIC Mucopolysaccharidosis Type IIIC Sanfilippo Syndrome Type C HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase MPS IIID Mucopolysaccharidosis Type IIID Sanfilippo Syndrome Type D GNS N-acetylglucosamine-6-sulfatase Morquio Syndrome Type A Mucopolysaccharidosis Type IVA MPS IVA GALNS N-acetylgalactosamine-6-sulfatase MPSIV MPS IV Morquio Syndrome Type B Mucopolysaccharidosis Type IVB MPS IVB GLB2 Beta-galactosidase Arylsulfatase B Deficiency Mucopolysaccharidosis Type VI Maroteaux-Lamy Syndrome MPS VI ARSB Arylsulfatase B MPSVI Beta-Glucuronidase Deficiency Mucopolysaccharidosis Type VII Glucuronidase Deficiency MPS MPS VII Sly Syndrome GUSB Beta-glucuronidase MPSVII
0081357 Mucopolysaccharides, Quantitative, Urine   Mucopolysaccharidoses (MPS), MPS QNT Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI Hunter Syndrome Mucopolysaccharidosis Type II I2S Deficiency Iduronate 2-Sulfatase Deficiency MPS II IDS Iduronate 2-sulfatase MPSII MPS IIIA Mucopolysaccharidosis Type IIIA Sanfilippo Syndrome Type A SGSH N-sulphoglucosamine sulphohydrolase MPS III MPSIII MPS IIIB Mucopolysaccharidosis Type IIIB Sanfilippo Syndrome Type B NAGLU Alpha-N-acetylglucosaminidase MPS IIIC Mucopolysaccharidosis Type IIIC Sanfilippo Syndrome Type C HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase MPS IIID Mucopolysaccharidosis Type IIID Sanfilippo Syndrome Type D GNS N-acetylglucosamine-6-sulfatase Morquio Syndrome Type A Mucopolysaccharidosis Type IVA MPS IVA GALNS N-acetylgalactosamine-6-sulfatase MPSIV MPS IV Morquio Syndrome Type B Mucopolysaccharidosis Type IVB MPS IVB GLB1 Beta-galactosidase Arylsulfatase B Deficiency Mucopolysaccharidosis Type VI Maroteaux-Lamy Syndrome MPS VI ARSB Arylsulfatase B MPSVI Beta-Glucuronidase Deficiency Mucopolysaccharidosis Type VII Glucuronidase Deficiency MPS MPS VII Sly Syndrome GUSB Beta-glucuronidase MPSVII, A-I LEUK Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI
2011415 Alpha-Iduronidase Enzyme Activity in Leukocytes Mucopolysaccharidoses (MPS), A-I LEUK Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI
3003566 Mucopolysaccharidoses Type 1/2, Total Heparan Sulfate and NRE (Sensi-Pro®) Quantitative, Serum or Plasma   Heparan Sulfate total and NRE, Serum/Plasma, HS non reducing end assay, MPS 1, MPS 2, MPS I, MPS II, MPS Type 1, MPS Type 2
3003552 Mucopolysaccharidoses Type 1/2, Total Heparan Sulfate and NRE (Sensi-Pro®) Quantitative, Urine   heparan sulfate, HS non reducing end assay, MPS 1, MPS 2, MPS I, MPS II, MPS Type 1, MPS Type 2, Urine mucopolysaccharides total and NRE, Urine total and NRE mucopolysaccharides
3003487 Mucopolysaccharidoses Type 4A/6 Total Chondroitin Sulfate and Dermatan Sulfate with NRE (Sensi-Pro®) Quantitative, Serum   CS non reducing end assay, DS non reducing end assay, MPS 4a, MPS 6, MPS type 4a, MPS type 6, Mucopolysaccharides, Total Chondroitin Sulfate, Total Dermatan Sulfate
3003539 Mucopolysaccharidoses Type 4A/6 Total CS-DS and NRE (Sensi-Pro®) Quantitative, Urine   CS non reducing end assay, DS non reducing end assay, MPS 4a, MPS 6, MPS type 4a, MPS type 6, Mucopolysaccharides, Total Chondroitin Sulfate, Total Dermatan Sulfate
Multiple Endocrine Neoplasia Type 1 (MEN1)Multiple Endocrine Neoplasia Type 1 (MEN1), MEN1 FGA, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN)
2005360 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication Multiple Endocrine Neoplasia Type 1 (MEN1), MEN1 FGA, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN)
2005359 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing   Multiple Endocrine Neoplasia Type 1 (MEN1), MEN1 FGS, Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN)
Multiple Endocrine Neoplasia Type 2 (MEN2)Multiple Endocrine Neoplasia Type 2 (MEN2), MEN2 SEQ, Thyroid Cancer, Pheochromocytoma, Multiple Endocrine Neoplasias (MEN), MEN 2A, MEN 2B, familial medullary thyroid carcinoma, FMTC, RET proto-oncogene
0051390 Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing Multiple Endocrine Neoplasia Type 2 (MEN2), MEN2 SEQ, Thyroid Cancer, Pheochromocytoma, Multiple Endocrine Neoplasias (MEN), MEN 2A, MEN 2B, familial medullary thyroid carcinoma, FMTC, RET proto-oncogene
Muscular DystrophyMuscular Dystrophy, DMD REFLEX, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD, DMD DD, DMD DD FE
2011241 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing Muscular Dystrophy, DMD REFLEX, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011235 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication Muscular Dystrophy, DMD DD, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011153 Duchenne/Becker Muscular Dystrophy (DMD) Sequencing Muscular Dystrophy, DMD SEQ, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
2011231 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal Muscular Dystrophy, DMD DD FE, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD
3001839 Emery-Dreifuss Muscular Dystrophy Panel, Sequencing EMD, FHL1, LMNA, EDMD1, EDMD2, EDMD3, EDMD6
3001907 Myotonic Dystrophy Type 1 (DMPK) CTG Expansion Muscular Dystrophy, DM1, CTG repeat
NarcolepsyNarcolepsy, NARCOLEPSY, Narcolepsy, HLA-DQB1, sleep
2005023 Narcolepsy (HLA-DQB1*06:02) Genotyping Narcolepsy, NARCOLEPSY, Narcolepsy, HLA-DQB1, sleep
Neurofibromatosis Type 1Neurofibromatosis Type 1, Neurofibromatosis Type 1
2007154 Neurofibromatosis Type 1 (NF1) Sequencing and Deletion/Duplication Neurofibromatosis Type 1,  
2007159 Neurofibromatosis Type 1 (NF1) Sequencing   Neurofibromatosis Type 1,  
Niemann-Pick Disease Type ANiemann-Pick Disease Type A, SMPD1, Jewish Genetic, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del, Ashkenazi Jewish
0051458 Niemann-Pick, Type A (SMPD1), 4 Variants Niemann-Pick Disease Type A, SMPD1, Jewish Genetic, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del, Ashkenazi Jewish
Non-Alcoholic Fatty Liver DiseaseNon-Alcoholic Fatty Liver Disease, hepatic steatosis genotyping
2014599 Non-Alcoholic Fatty Liver Disease Susceptibility (PNPLA3) Genotyping Non-Alcoholic Fatty Liver Disease, hepatic steatosis genotyping
Non-Invasive Prenatal Testing (Cell-Free DNA)Non-Invasive Prenatal Testing (Cell-Free DNA), NIPT ANEU, NIPD, Verify, T21, T18, T13, 45X, trisomy 21, trisomy 18, trisomy 13, turner syndrome, down syndrome, edward syndrome, patau syndrome, InformaSeq, Qnatal, Pregnancy Screen, patau syndrome, Microdeletion, deletion, DiGeorge, Velocardiofacial, VCF, VCFS, 22q, del22, Angelman, Prader-Willi, 15q, PWS, 5p-, 5p, cri du chat, cri-du-chat, 1p36, InformaSeq, Qnatal, Pregnancy Screen
2007537 Non-Invasive Prenatal Testing for Fetal Aneuploidy Non-Invasive Prenatal Testing (Cell-Free DNA), NIPT ANEU, NIPD, Verify, T21, T18, T13, 45X, trisomy 21, trisomy 18, trisomy 13, turner syndrome, down syndrome, edward syndrome, patau syndrome, InformaSeq, Qnatal, Pregnancy Screen
2013142 Non-Invasive Prenatal Testing for Fetal Aneuploidy with 22q11.2 Microdeletion Additional Technical Information Non-Invasive Prenatal Testing (Cell-Free DNA), NIPT ANEU, NIPD, Verify, T21, T18, T13, 45X, trisomy 21, trisomy 18, trisomy 13, turner syndrome, down syndrome, edward syndrome, patau syndrome, InformaSeq, Qnatal, Pregnancy Screen
2010232 Non-Invasive Prenatal Testing for Fetal Aneuploidy with Microdeletions Non-Invasive Prenatal Testing (Cell-Free DNA), NIPTANEUMD, NIPD, Verify, T21, T18, T13, 45X, trisomy 21, trisomy 18, trisomy 13, turner syndrome, down syndrome, edward syndrome, patau syndrome, Microdeletion, deletion, DiGeorge, Velocardiofacial, VCF, VCFS, 22q, del22, Angelman, Prader-Willi, 15q, PWS, 5p-, 5p, cri du chat, cri-du-chat, 1p36, InformaSeq, Qnatal, Pregnancy Screen
Noonan SyndromeNoonan Syndrome, PTPN11 FGS, Neurocognitive Impairments, NS, SOS1, Leopard, Noonan-like/multiple giant-cell lesion, Metachondromatosis, NS REFLEX, Neurocognitive Impairments, NS, Leopard, Noonan-like/multiple giant-cell lesion, SOS1 FGS, Neurocognitive Impairments, NS, PTPN11, Leopard, Noonan-like/multiple giant-cell lesion, NOONAN SEQ, BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K1/MEK1, MAP2K2/MEK2, NRAS, PTPN11, RAB20AL, RAF, RIT1, SHOC2, SOS1, SPRED1, Noonan Syndrome, Cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, LEOPARD syndrome, Noonan-like syndrome with loose anagen hair
0051805 Noonan Syndrome (PTPN11) Sequencing Noonan Syndrome, PTPN11 FGS, Neurocognitive Impairments, NS, SOS1, Leopard, Noonan-like/multiple giant-cell lesion, Metachondromatosis
2010772 Noonan Spectrum Disorders Panel, Sequencing Noonan Syndrome, NOONAN SEQ, BRAF, CBL, HRAS, KRAS, MAP2K1/MEK1, MAP2K2/MEK2, NRAS, PTPN11, RAF, RIT1, SHOC2, SOS1, SPRED1, Noonan Syndrome, Cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, LEOPARD syndrome, Noonan-like syndrome with loose anagen hair, RAS, Rasopathies, Rasopathy, LZTR1, RASA2, SOS2
2010769 Noonan Spectrum Disorders Panel, Sequencing, Fetal Noonan Syndrome, NOONAN FE, BRAF, CBL, HRAS, KRAS, MAP2K1/MEK1, MAP2K2/MEK2, NRAS, PTPN11, RAF, RIT1, SHOC2, SOS1, SPRED1, Noonan Syndrome, Cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, LEOPARD syndrome, Noonan-like syndrome with loose anagen hair, RAS, Rasopathies, Rasopathy, LZTR1, RASA2, SOS2
Oncology StudiesOncology Studies, Acute Lymphoblastic Leukemia, Acute Myelogenous Leukemia, MDS, B-cell lymphomas, T-cell lymphomas, ALL, Bcell, B-cell, b cell, T-cell, Tcell, T Cell, B-ALL, CDKN2A/B, BTG1, IKZF1, EBF1, UPD 9p, Myelodysplastic, MDS, Myeloproliferative, MPD, 5q-; -7 or 7q-,+8; 20q-, LOH, UPD 7q, UPD 11q, UPD 17p, CLL, P53, Chronic lymphocytic leukemia, CHR ONC, biopsy, karyotype, cancer, oncology, lymphoma, CHR ST, Sarcoma, Ewings
2002292 Chromosome Analysis, Bone Marrow   Oncology Studies, Acute Lymphoblastic Leukemia, Acute Myelogenous Leukemia, MDS, B-cell lymphomas, T-cell lymphomas
2002290 Chromosome Analysis, Leukemic Blood   Oncology Studies, Acute Lymphoblastic Leukemia, Acute Myelogenous Leukemia, MDS, B-cell lymphomas, T-cell lymphomas
2007130 Bone Marrow, Chromosome Analysis with Reflex to Genomic Microarray   Oncology Studies, ALL, Bcell, B-cell, b cell, T-cell, Tcell, T Cell, B-ALL, CDKN2A/B, BTG1, IKZF1, EBF1, UPD 9p, Myelodysplastic, MDS, Myeloproliferative, MPD, 5q-; -7 or 7q-,+8; 20q-, LOH, UPD 7q, UPD 11q, UPD 17p, CLL, P53, Chronic lymphocytic leukemia
2007131 Leukemic Blood, Chromosome Analysis with Reflex to Genomic Microarray   Oncology Studies,  
2002300 Chromosome Analysis, Lymph Node   Oncology Studies, CHR ONC, biopsy, karyotype, cancer, oncology, lymphoma
2002296 Chromosome Analysis, Solid Tumor   Oncology Studies, CHR ST, Sarcoma, Ewings
Oncology Studies, FISH—Blood and Bone Marrow PanelsOncology Studies, FISH—Blood and Bone Marrow Panels, FISH A ALL, B-Cell Lymphoma, MYC BCR-ABL1, MLL, IGH@, TCF3, E2A, FISH P ALL, Oncology, Bone Marrow , B-Cell Lymphoma, childhood, child, children, CEP4, CEP10, BCR-ABL1 MLL, ETV6-RUNX1, TEL-AML1, F TAML MDS, Myelodysplastic syndrome, Acute Myeloid Leukemia, EGR1, D7S486, MLL, FISH AML P, Acute Myeloid Leukemia, AML, Myeloproliferative, MPD, PML-RARA, RUNX1T1-RUNX1, ETO-AML1, CBFB, MLL, RPN1/MECOM, EVI1, EGR1, D7S486, KMT2A, FISH CLLP, Chronic Lymphocytic Leukemia, CLL, Lymphoma Phenotyping, B-Cell Lymphomas, Tumor Markers, ATM, D12Z3, D13S319, TP53, p53, MMF PR &HL, FISH EOS P, Mast Cell Disease, Eosinophilic Diseases, Acute Myeloid Leukemia (AML), Myeloproliferative Neoplasms (MPN), PDGFRA-CHIC2-FIP1L1, PDGFRB, FGFR1, CBFB
2002647 Acute Lymphocytic Leukemia (ALL) Panel by FISH, Adult Oncology Studies, FISH—Blood and Bone Marrow Panels, FISH A ALL, B-Cell Lymphoma, MYC BCR-ABL1, MLL, IGH@, TCF3, E2A
2002719 Acute Lymphocytic Leukemia (ALL) Panel by FISH, Pediatric Oncology Studies, FISH—Blood and Bone Marrow Panels, FISH P ALL, Oncology, Bone Marrow , B-Cell Lymphoma, childhood, child, children, CEP4, CEP10, BCR-ABL1 MLL, ETV6-RUNX1, TEL-AML1
2002653 Acute Myelogenous Leukemia (AML) with Myelodysplastic Syndrome (MDS), or Therapy-Related AML, by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels, F TAML MDS, Myelodysplastic syndrome, Acute Myeloid Leukemia, EGR1, D7S486, MLL
2011132 Acute Myelogenous Leukemia Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels, FISH AML P, Acute Myeloid Leukemia, AML, Myeloproliferative, MPD, PML-RARA, RUNX1T1-RUNX1, ETO-AML1, CBFB, MLL, RPN1/MECOM, EVI1, EGR1, D7S486, KMT2A
2002295 Chromosome FISH, CLL Panel Oncology Studies, FISH—Blood and Bone Marrow Panels, FISH CLLP, Chronic Lymphocytic Leukemia, CLL, Lymphoma Phenotyping, B-Cell Lymphomas, Tumor Markers, ATM, D12Z3, D13S319, TP53, p53
2006270 Chromosome FISH, Multiple Myeloma Panel Process and Hold   Oncology Studies, FISH—Blood and Bone Marrow Panels, MMF PR &HLD
2002378 Eosinophilia Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels, FISH EOS P, Mast Cell Disease, Eosinophilic Diseases, Acute Myeloid Leukemia (AML), Myeloproliferative Neoplasms (MPN), PDGFRA-CHIC2-FIP1L1, PDGFRB, FGFR1, CBFB, FISH ALYMP, Lymphoma Phenotyping, B-Cell Lymphomas, Lymphoproliferative Disorders (LPD), BCL6, MYC, IGH@/BCL2
3002737 FISH, Interphase, CD138+ Cells   CD138+ sorted cells, multiple myeloma, prognostic, MGUS, Plasma cell neoplasms
2002650 Lymphoma (Aggressive) Panel by FISH Additional Technical Information Oncology Studies, FISH—Blood and Bone Marrow Panels, FISH ALYMP, Lymphoma Phenotyping, B-Cell Lymphomas, Lymphoproliferative Disorders (LPD), BCL6, MYC, IGH@/BCL2
3002063 Multiple Myeloma Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels, FISH MMP, Plasma Cell Dyscrasias, CKS1B, ASS1, CCND1-IGH@, IGH@, PML, TP53, FGFR3-IGH@, IGH@-MAF
2002709 Myelodysplastic Syndrome (MDS) Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels, FISH MDS P, Myelodysplastic Syndrome (MDS), EGR1, D7S486, CEP8, D20S108
2002360 Myeloproliferative Disorders Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels, FISH MPD P, Chronic Myelogenous Leukemia (CML), Myeloproliferative Neoplasms (MPN), PDGFRα-CHIC2-FIP1L1, PDGFRa-CHIC2-FIP1L1, PDGFRβ, FGFR1, ABL1-BCR
2002363 PML/RARα Translocation by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels, FISH PML, Acute Myeloid Leukemia (AML), Acute Promyelocytic Leukemia (APL), Tumor Markers
Oncology Studies, FISH—Blood and Bone Marrow—by Gene/ProbeOncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, FISH AML P, Acute Myeloid Leukemia, AML, Myeloproliferative, MPD, PML-RARA, RUNX1T1-RUNX1, ETO-AML1, CBFB, MLL, RPN1/MECOM, EVI1, EGR1, D7S486, KMT2A, Multiple Myeloma; Chronic Myelogenous Leukemia; CML, Chronic Lymphocytic Leukemia; CLL, Diffuse large cell lymphoma; Aggressive lymphoma, Myeloproliferative Disorder; Chronic Myelogenous Leukemia; CML; Acute Lymphocytic Leukemia; ALL; Adult; Pediatric, Eosinophilia; Acute Myeloid Leukemia; AML, Multiple Myeloma; Mantle cell lymphoma, ALL; Pediatric, Myelodysplastic Syndrome, Myelodysplastic Syndrome; Acute Myelogenous Leukemia; AML; Therapy-related AML, Ewing sarcoma; Ewings, Synovial sarcoma, Myxoid Liposarcoma, Myelodysplastic Syndrome; Acute Myelogenous Leukemia; AML; Therapy-related AML, Follicular lymphoma; Aggressive lymphoma
2002298 Chromosome FISH, Interphase—ASS1; +9/9q34   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Multiple Myeloma; Chronic Myelogenous Leukemia; CML
2002298 Chromosome FISH, Interphase—ATM; del(11)(q22.3)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Chronic Lymphocytic Leukemia; CLL
2002298 Chromosome FISH, Interphase—BCL6; 3q27   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Diffuse large cell lymphoma; Aggressive lymphoma
2002298 Chromosome FISH, Interphase—BCR-ABL1; t(9;22)(q34;q11.2)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Myeloproliferative Disorder; Chronic Myelogenous Leukemia; CML; Acute Lymphocytic Leukemia; ALL; Adult; Pediatric
2002298 Chromosome FISH, Interphase—CBFB; inv(16)(p13.3q22)/t(16;16)(p13;q22)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Eosinophilia; Acute Myeloid Leukemia; AML
2002298 Chromosome FISH, Interphase—CCND1-IGH@; t(11;14)(q13;q32)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Multiple Myeloma; Mantle cell lymphoma
2002298 Chromosome FISH, Interphase—Chromosome 10, centromere   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Acute Lymphocytic Leukemia; ALL; Pediatric
2002298 Chromosome FISH, Interphase—Chromosome 4, centromere   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Acute Lymphocytic Leukemia; ALL; Pediatric
2002298 Chromosome FISH, Interphase—Chromosome 8, centromere   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Myelodysplastic Syndrome
2002298 Chromosome FISH, Interphase—CKS1B; 1q21   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Multiple Myeloma
2002298 Chromosome FISH, Interphase—D12Z3; +12   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Chronic Lymphocytic Leukemia; CLL
2002298 Chromosome FISH, Interphase—D13S319; del(13)(q14.3)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Chronic Lymphocytic Leukemia; CLL
2002298 Chromosome FISH, Interphase—D20S108; del(20)(q12)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Myelodysplastic Syndrome
2002298 Chromosome FISH, Interphase—D7S486; del(7)(q31)/-7   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Myelodysplastic Syndrome; Acute Myelogenous Leukemia; AML; Therapy-related AML
2002298 Chromosome FISH, Interphase—DDIT3 (CHOP); 12q13   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Myxoid Liposarcoma
2002298 Chromosome FISH, Interphase—EGR1; del(5)(q31)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Myelodysplastic Syndrome; Acute Myelogenous Leukemia; AML; Therapy-related AML
2002298 Chromosome FISH, Interphase—ETV6-RUNX1 (TEL-AML1); t(12;21)(p13;q22)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Acute Lymphocytic Leukemia; ALL; Pediatric
2002298 Chromosome FISH, Interphase—EWSR1; 22q12.2   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Ewing sarcoma; Ewings
2002298 Chromosome FISH, Interphase—FGFR1; 8p12   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Myeloproliferative Disorder; Eosinophilia
2002298 Chromosome FISH, Interphase—FGFR3-IGH@; t(4;14)(p16;q32)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Multiple Myeloma
2002298 Chromosome FISH, Interphase—IGH@-BCL2; t(14;18)(q32;q21)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Follicular lymphoma; Aggressive lymphoma
2002298 Chromosome FISH, Interphase—IGH@-MAF; t(14;16)(q32;q23.1)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Multiple Myeloma
2002298 Chromosome FISH, Interphase—IGH@; 14q32   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Multiple Myeloma; IGH rearrangement; lymphoma; Acute Lymphocytic Leukemia; ALL; Adult
2002298 Chromosome FISH, Interphase—MALT1; 18q21   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Lymphoma
2002298 Chromosome FISH, Interphase—MLL; 11q23   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Acute Myelogenous Leukemia; AML; Acute Myeloid Leukemia; Therapy-related AML; Acute Lymphocytic Leukemia; ALL; Adult; Pediatric
2002298 Chromosome FISH, Interphase—MYC; 8q24   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Burkitt lymphoma; Aggressive lymphoma; Acute Lymphocytic Leukemia; ALL; Adult
2002298 Chromosome FISH, Interphase—PDGFRα-CHIC2-FIP1L1; 4q12   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Myeloproliferative Disorder; Eosinophilia
2002298 Chromosome FISH, Interphase—PDGFRβ; 5q32   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Myeloproliferative Disorder; Eosinophilia
2002298 Chromosome FISH, Interphase—PML-RARA; t(15;17)(q22;q21)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Acute Myeloid Leukemia; AML
2002298 Chromosome FISH, Interphase—PML; +15   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Multiple Myeloma
2002298 Chromosome FISH, Interphase—RUNX1T1-RUNX1 (ETO-AML1); t(8;21)(q22;q22)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Acute Myeloid Leukemia; AML
2002298 Chromosome FISH, Interphase—SS18 (SYT); 18q11.2   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Synovial sarcoma
2002298 Chromosome FISH, Interphase—TCF3 (E2A); 19p13   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Acute Lymphocytic Leukemia; ALL; Adult
2002298 Chromosome FISH, Interphase—TP53 (p53); del(17)(p13.1)   Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe, Multiple Myeloma; Chronic Lymphocytic Leukemia; CLL
Oncology Studies, FISH—OtherOncology Studies, FISH—Other, PF, Pancreatic Cancer, Tumor Markers, UF, Bladder Cancer, Tumor Markers, urine
2002528 Pancreatobiliary FISH   Oncology Studies, FISH—Other, PF, Pancreatic Cancer, Tumor Markers
2001181 UroVysion FISH Oncology Studies, FISH—Other, UF, Bladder Cancer, Tumor Markers, urine,
Oncology Studies, FISH—Paraffin BlockOncology Studies, FISH—Paraffin Block, 1p19q, Oncology, Paraffin, Brain Tumors, Tumor, HER2FISH, Breast Cancer, Tumor Markers, FISH, herceptin, HER2, HER-2, neu, HER2/neu, pathvision, pathvysion, NMYC, Neuroblastoma, Tumor Markers, CHOPFISH, Sarcoma, myxoid liposarcoma, round cell liposarcoma, EGFRFISH, Head and Neck Cancer, Lung Cancer, Brain Tumors, EWSR1, Ewing Sarcoma, Sarcoma, Tumor Markers, FKHRFISH, Sarcoma, FOX, FOXO1, 13q14, alveolar rhabdomyosarcoma, B-Cell Lymphomas, Follicular lymphoma, Diffuse large B-cell lymphoma, FISH, Mantle cell lymphoma, B-Cell Lymphomas, Plasma cell dyscrasias, Tumor Markers, Burkitt lymphoma, B-Cell Lymphomas, MDM2 FISH, Sarcoma, Tumor Markers, MDM2, Murine Double Minute 2, Burkitt lymphomas, B-Cell Lymphomas, Double Hit lymphomas, Tumor Markers
3001309 1p/19q Deletion by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block, 1p19q, Oncology, Paraffin, Brain Tumors, Tumor
3001495 Aggressive B-Cell Lymphoma Reflex Panel by FISH, Tissue Additional Technical Information Oncology Studies, FISH—Paraffin Block,  
3001302 ALK Gene Rearrangements by FISH, Lung   Oncology Studies, FISH—Paraffin Block,  
3001311 BCL6 (3q27) Gene Rearrangement by FISH   Oncology Studies, FISH—Paraffin Block,  
3001304 DDIT3 (CHOP) (12q13) Gene Rearrangement by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block, CHOPFISH, Sarcoma, myxoid liposarcoma, round cell liposarcoma
3001310 EGFR Gene Amplification by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block, EGFRFISH, Head and Neck Cancer, Lung Cancer, Brain Tumors
2008603 ERBB2 (HER-2/neu) Gene Amplification by FISH, Tissue Oncology Studies, FISH—Paraffin Block, HER2FISH, Breast Cancer, Tumor Markers, FISH, herceptin, HER2, HER-2, neu, HER2/neu, pathvision, pathvysion
3001305 EWSR1 (22q12) Gene Rearrangement by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block, EWSR1, Ewing Sarcoma, Sarcoma, Tumor Markers
3001297 FOXO1 (FKHR) (13q14) Gene Rearrangement by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block, FKHRFISH, Sarcoma, FOX, FOXO1, 13q14, alveolar rhabdomyosarcoma
3000548 FUS (16p11) Gene Rearrangement by FISH   Oncology Studies, FISH—Paraffin Block,  
3001298 IGH-BCL2 Fusion, t(14;18) by FISH for Detection in Follicular Lymphoma Additional Technical Information Oncology Studies, FISH—Paraffin Block, B-Cell Lymphomas, Follicular lymphoma, Diffuse large B-cell lymphoma, FISH
3001306 IGH-CCND1 Fusion, t(11;14) by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block, Mantle cell lymphoma, B-Cell Lymphomas, Plasma cell dyscrasias, Tumor Markers
3001299 IGH-MYC Fusion t(8;14) by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block, Burkitt lymphoma, B-Cell Lymphomas
3001568 IRF4/DUSP22 (6p25) Gene Rearrangement by FISH   Oncology Studies, FISH—Paraffin Block,  
3001313 MET Gene Amplification by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block, MET Gene Amplification by FISH
3001301 MDM2 Gene Amplification by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block, MDM2 FISH, Sarcoma, Tumor Markers, MDM2, Murine Double Minute 2
3001300 MYC (8q24) Gene Rearrangement by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block, Burkitt lymphomas, B-Cell Lymphomas, Double Hit lymphomas, Tumor Markers
3001307 MYCN (N-MYC) Gene Amplification by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block, NMYC, Neuroblastoma, Tumor Markers
3001312 RET Gene Rearrangements by FISH   Oncology Studies, FISH—Paraffin Block,  
3001308 ROS1 by FISH   Oncology Studies, FISH—Paraffin Block,  
3001303 SS18 (SYT) (18q11) Gene Rearrangement by FISH Additional Technical Information Oncology Studies, FISH—Paraffin Block,  
Oncology Studies, MicroarrayOncology Studies, Microarray, ALL, Bcell, B-cell, b cell, T-cell, Tcell, T Cell, B-ALL, CDKN2A/B, BTG1, IKZF1, EBF1, UPD 9p, Myelodysplastic, MDS, Myeloproliferative, MPD, 5q-; -7 or 7q-,+8; 20q-, LOH, UPD 7q, UPD 11q, UPD 17p, CLL, P53, Chronic lymphocytic leukemia, FFPE ARRAY, array CGH; aCGH; Array Comparative Genomic Hybridization; Chromosomal Microarray; CMA; CGH; Microarray; Single-nucleotide-polymorphism (SNP) array; Whole Genome Array; tumor; oncology, formalin-fixed, paraffin-embedded, FFPE; tissue, CMA ONC ALL, Bcell, B-cell, b cell, T-cell, Tcell, T Cell, B-ALL, CDKN2A/B, BTG1, IKZF1, EBF1, UPD 9p, Myelodysplastic, MDS, Myeloproliferative, MPD, 5q-; -7 or 7q-,+8; 20q-, LOH, UPD 7q, UPD 11q, UPD 17p, CLL, P53, Chronic lymphocytic leukemia, MYE CMANGS same as CMA ONC, MYE NGS
2007130 Bone Marrow, Chromosome Analysis with Reflex to Genomic Microarray   Oncology Studies, Microarray, ALL, Bcell, B-cell, b cell, T-cell, Tcell, T Cell, B-ALL, CDKN2A/B, BTG1, IKZF1, EBF1, UPD 9p, Myelodysplastic, MDS, Myeloproliferative, MPD, 5q-; -7 or 7q-,+8; 20q-, LOH, UPD 7q, UPD 11q, UPD 17p, CLL, P53, Chronic lymphocytic leukemia
2007131 Leukemic Blood, Chromosome Analysis with Reflex to Genomic Microarray   Oncology Studies, Microarray,  
2010229 Cytogenomic Molecular Inversion Probe Array, Copy Number and Heterozygosity Assessment - Formalin-Fixed Paraffin-Embedded (FFPE) Tissue   Oncology Studies, Microarray, FFPE ARRAY, array CGH; aCGH; Array Comparative Genomic Hybridization; Chromosomal Microarray; CMA; CGH; Microarray; Single-nucleotide-polymorphism (SNP) array; Whole Genome Array; tumor; oncology, formalin-fixed, paraffin-embedded, FFPE; tissue
2006325 Cytogenomic SNP Microarray—Oncology Additional Technical Information Oncology Studies, Microarray, CMA ONC ALL, Bcell, B-cell, b cell, T-cell, Tcell, T Cell, B-ALL, CDKN2A/B, BTG1, IKZF1, EBF1, UPD 9p, Myelodysplastic, MDS, Myeloproliferative, MPD, 5q-; -7 or 7q-,+8; 20q-, LOH, UPD 7q, UPD 11q, UPD 17p, CLL, P53, Chronic lymphocytic leukemia
2012182 Myeloid Malignancies Somatic Mutation and Copy Number Analysis Panel Oncology Studies, Microarray, MYE CMANGS same as CMA ONC, MYE NGS
Opioid Receptor, MuOpioid Receptor, Mu, OPRM1, opioid receptor, mu, mu receptor, naltrexone, opioid dependency, alcoholism, pharmacogenetics, PGX
2008767 Opioid Receptor, Mu (OPRM1) Genotype, 1 Variant Additional Technical Information Opioid Receptor, Mu, OPRM1, opioid receptor, mu, mu receptor, naltrexone, opioid dependency, alcoholism, pharmacogenetics, PGX
Organic AcidsOrganic Acids, ORG AC 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency HMG-CoA Lyase Deficiency HMGCL Hydroxymethylglutaryl-CoA lyase, mitochondrial HMG Lyase Deficiency 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency HADH Deficiency HADH Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial SCHAD MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC2-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC1 MCCC2 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial 3 MCC 3MCC 3-Methylglutaconic Aciduria Type 1 3-Methylglutaconyl-CoA Hydratase Deficiency AUH Methylglutaconyl-CoA hydratase, mitochondrial MGA1 MGA 1 5-Oxoprolinuria Glutathione Synthetase Deficiency Oxoprolinase Deficiency Pyroglutamicaciduria GSS Glutathione synthetase Pyroglutamic Aciduria Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency 2-Methyl Butyryl CoA Dehydrogenase Deficiency Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial SCAD Alkaptonuria Alcaptonuria HGD Homogentisate 1,2-dioxygenase Homogentisic acid Canavan Disease ASPA deficiency Aspartoacylase Deficiency ASPA Aspartoacylase NAA N-acetylaspartic acid N acetyl aspartic acid Ethylmalonic Encephalopathy Protein ETHE1, mitochondrial ETHE1 EMA Ethyl malonic acid Ethylmalonic acid Fatty Acid Oxidation Disorders FAOD GA1 Glutaricacidemia Type 1 GAI Glutaricaciduria Type I GCDH Glutaryl-CoA dehydrogenase, mitochondrial Glutaric Acidemia type I Glutaric Acidemia type 1 Glutaric Aciduria type 1 Glutaric Aciduria type I GA 1 GA I Glycerol Kinase Deficiency GKD Hyperglycerolemia GK Glycerol kinase Biotin Holocarboxylase Synthetase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Holocarboxylase Synthetase Deficiency Early-Onset Combined Carboxylase Deficiency Early-Onset Multiple Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Hyperoxaluria, Primary, Type 1 Alanine-Glyoxylate Aminotransferase Deficiency Glycolic Aciduria Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency AGXT Serine--pyruvate aminotransferase oxalate Isovaleric Acidemia IVD Isovaleryl-CoA dehydrogenase, mitochondrial IVA Ketothiolase Deficiency Beta-Ketothiolase Deficiency Alpha-Methylacetoaceticaciduria Methylacetoacetyl-CoA Thiolase Deficiency ACAT1 Acetyl-CoA acetyltransferase, mitochondrial Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency LCHAD Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial Malonyl-CoA Decarboxylase Deficiency Malonic Aciduria MLYCD Malonyl-CoA decarboxylase, mitochondrial Medium Chain 3-Ketothiolase Deficiency MCKAT Deficiency Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM MCAD Deficiency Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Methylmalonic Acidemia Methylmalonicaciduria Methylmalonic Aciduria MCEE-Related Methylmalonic Acidemia MMAA-Related Methylmalonic Acidemia MMAB-Related Methylmalonic Acidemia MMADHC-Related Methylmalonic Acidemia MUT-Related Methylmalonic Acidemia MCEE Methylmalonyl-CoA epimerase, mitochondrial MMAA Methylmalonic aciduria type A protein, mitochondrial MMAB Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial MMADHC Methylmalonic aciduria and homocystinuria type D protein, mitochondrial MUT Methylmalonyl-CoA mutase, mitochondrial MMA Mevalonicaciduria Mevalonate Kinase Deficiency MVK Mevalonate kinase mevalonic acid Multiple Acyl-CoA Dehydrogenase Deficiency Ethylmalonic-Adipicaciduria Glutaric Acidemia II Glutaric Aciduria II MADD ETFA Electron transfer flavoprotein subunit alpha, mitochondrial ETFB Electron transfer flavoprotein subunit beta ETFDH Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial GA2 GA 2 GA II GAII Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Propionicacidemia Propionic Acidemia PCCA-Related Propionic Acidemia PCCB-Related Propionic Acidemia PCCA Propionyl-CoA carboxylase alpha chain, mitochondrial PCCB Propionyl-CoA carboxylase beta chain, mitochondrial Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS SCAD Deficiency ACADS Succinic Semialdehyde Dehydrogenase Deficiency 4-Hydroxybutyric Aciduria Gamma-Hydroxybutyric Aciduria SSADH Deficiency ALDH5A1 Succinate-semialdehyde dehydrogenase, mitochondrial Trifunctional Protein Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial HADHB Trifunctional enzyme subunit beta, mitochondrial Tyrosinemia Type I FAH Deficiency Fumarylacetoacetase Deficiency Fumarylacetoacetate Hydrolase Deficiency Hepatorenal Tyrosinemia Hereditary Tyrosinemia Type I FAH Fumarylacetoacetase Tyrosinemia Type II Keratosis Palmoplantaris with Corneal Dystrophy Oculocutaneous Tyrosinemia Oregon Type Tyrosinemia Richner-Hanhart Syndrome TAT Deficiency Tyrosine Aminotransferase Deficiency Tyrosine Transaminase Deficiency TAT Tyrosine aminotransferase Tyrosinemia Type III 4-Hydroxyphenylpyruvate Dioxygenase Deficiency HPD 4-hydroxyphenylpyruvate dioxygenase Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency Very Long Chain Acyl-CoA Dehydrogenase Deficiency | VLCAD Deficiency ACADVL Very long-chain specific acyl-CoA dehydrogenase, mitochondrial, ORG AC P
0098389 Organic Acids, Urine Organic Acids, ORG AC 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency HMG-CoA Lyase Deficiency HMGCL Hydroxymethylglutaryl-CoA lyase, mitochondrial HMG Lyase Deficiency 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency HADH Deficiency HADH Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial SCHAD MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC2-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC1 MCCC2 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial 3 MCC 3MCC 3-Methylglutaconic Aciduria Type 1 3-Methylglutaconyl-CoA Hydratase Deficiency AUH Methylglutaconyl-CoA hydratase, mitochondrial MGA1 MGA 1 5-Oxoprolinuria Glutathione Synthetase Deficiency Oxoprolinase Deficiency Pyroglutamicaciduria GSS Glutathione synthetase Pyroglutamic Aciduria Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency 2-Methyl Butyryl CoA Dehydrogenase Deficiency Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial SCAD Alkaptonuria Alcaptonuria HGD Homogentisate 1,2-dioxygenase Homogentisic acid Canavan Disease ASPA deficiency Aspartoacylase Deficiency ASPA Aspartoacylase NAA N-acetylaspartic acid N acetyl aspartic acid Ethylmalonic Encephalopathy Protein ETHE1, mitochondrial ETHE1 EMA Ethyl malonic acid Ethylmalonic acid Fatty Acid Oxidation Disorders FAOD GA1 Glutaricacidemia Type 1 GAI Glutaricaciduria Type I GCDH Glutaryl-CoA dehydrogenase, mitochondrial Glutaric Acidemia type I Glutaric Acidemia type 1 Glutaric Aciduria type 1 Glutaric Aciduria type I GA 1 GA I Glycerol Kinase Deficiency GKD Hyperglycerolemia GK Glycerol kinase Biotin Holocarboxylase Synthetase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Holocarboxylase Synthetase Deficiency Early-Onset Combined Carboxylase Deficiency Early-Onset Multiple Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Hyperoxaluria, Primary, Type 1 Alanine-Glyoxylate Aminotransferase Deficiency Glycolic Aciduria Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency AGXT Serine--pyruvate aminotransferase oxalate Isovaleric Acidemia IVD Isovaleryl-CoA dehydrogenase, mitochondrial IVA Ketothiolase Deficiency Beta-Ketothiolase Deficiency Alpha-Methylacetoaceticaciduria Methylacetoacetyl-CoA Thiolase Deficiency ACAT1 Acetyl-CoA acetyltransferase, mitochondrial Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency LCHAD Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial Malonyl-CoA Decarboxylase Deficiency Malonic Aciduria MLYCD Malonyl-CoA decarboxylase, mitochondrial Medium Chain 3-Ketothiolase Deficiency MCKAT Deficiency Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM MCAD Deficiency Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Methylmalonic Acidemia Methylmalonicaciduria Methylmalonic Aciduria MCEE-Related Methylmalonic Acidemia MMAA-Related Methylmalonic Acidemia MMAB-Related Methylmalonic Acidemia MMADHC-Related Methylmalonic Acidemia MUT-Related Methylmalonic Acidemia MCEE Methylmalonyl-CoA epimerase, mitochondrial MMAA Methylmalonic aciduria type A protein, mitochondrial MMAB Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial MMADHC Methylmalonic aciduria and homocystinuria type D protein, mitochondrial MUT Methylmalonyl-CoA mutase, mitochondrial MMA Mevalonicaciduria Mevalonate Kinase Deficiency MVK Mevalonate kinase mevalonic acid Multiple Acyl-CoA Dehydrogenase Deficiency Ethylmalonic-Adipicaciduria Glutaric Acidemia II Glutaric Aciduria II MADD ETFA Electron transfer flavoprotein subunit alpha, mitochondrial ETFB Electron transfer flavoprotein subunit beta ETFDH Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial GA2 GA 2 GA II GAII Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Propionicacidemia Propionic Acidemia PCCA-Related Propionic Acidemia PCCB-Related Propionic Acidemia PCCA Propionyl-CoA carboxylase alpha chain, mitochondrial PCCB Propionyl-CoA carboxylase beta chain, mitochondrial Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS SCAD Deficiency ACADS Succinic Semialdehyde Dehydrogenase Deficiency 4-Hydroxybutyric Aciduria Gamma-Hydroxybutyric Aciduria SSADH Deficiency ALDH5A1 Succinate-semialdehyde dehydrogenase, mitochondrial Trifunctional Protein Deficiency HADHA Trifunctional enzyme subunit alpha, mitochondrial HADHB Trifunctional enzyme subunit beta, mitochondrial Tyrosinemia Type I FAH Deficiency Fumarylacetoacetase Deficiency Fumarylacetoacetate Hydrolase Deficiency Hepatorenal Tyrosinemia Hereditary Tyrosinemia Type I FAH Fumarylacetoacetase Tyrosinemia Type II Keratosis Palmoplantaris with Corneal Dystrophy Oculocutaneous Tyrosinemia Oregon Type Tyrosinemia Richner-Hanhart Syndrome TAT Deficiency Tyrosine Aminotransferase Deficiency Tyrosine Transaminase Deficiency TAT Tyrosine aminotransferase Tyrosinemia Type III 4-Hydroxyphenylpyruvate Dioxygenase Deficiency HPD 4-hydroxyphenylpyruvate dioxygenase Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency Very Long Chain Acyl-CoA Dehydrogenase Deficiency | VLCAD Deficiency ACADVL Very long-chain specific acyl-CoA dehydrogenase, mitochondrial
Ornithine Transcarbamylase DeficiencyOrnithine Transcarbamylase Deficiency, OTC FGA, Urea cycle
2004896 Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication Ornithine Transcarbamylase Deficiency, OTC FGA, Urea cycle
Orotic AcidOrotic Acid, OROTIC ACI Arginase Deficiency Hyperargininemia ARG1 Arginase-1 ARG 1 Arginemia Argininosuccinate Lyase Deficiency Argininosuccinic Acid Lyase Deficiency ASL Deficiency ASL Argininosuccinate lyase ASA lyase deficiency Carbamoylphosphate Synthetase I Deficiency Carbamyl Phosphate Synthetase Deficiency CPS1 Deficiency CPS1 Carbamoyl-phosphate synthase [ammonia], mitochondrial CPS 1 CPS I Citrullinemia Type I Argininosuccinate Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency ASS Deficiency Citrullinemia, Classic CTLN1 ASS1 ASS1 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Orotic Aciduria UMPS Uridine 5'-monophosphate synthase
3000704 Orotic Acid, Urine Orotic Acid, OROTIC ACI Arginase Deficiency Hyperargininemia ARG1 Arginase-1 ARG 1 Arginemia Argininosuccinate Lyase Deficiency Argininosuccinic Acid Lyase Deficiency ASL Deficiency ASL Argininosuccinate lyase ASA lyase deficiency Carbamoylphosphate Synthetase I Deficiency Carbamyl Phosphate Synthetase Deficiency CPS1 Deficiency CPS1 Carbamoyl-phosphate synthase [ammonia], mitochondrial CPS 1 CPS I Citrullinemia Type I Argininosuccinate Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency ASS Deficiency Citrullinemia, Classic CTLN1 ASS1 ASS1 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Orotic Aciduria UMPS Uridine 5'-monophosphate synthase
Osteogenesis ImperfectaALPL, Hypophosphatasia, ANO5, Gnathodiaphyseal dysplasia, BMP1, OI, type XIII, CASR, Hyperparathyroidism, neonatal severe, CLCN5, Hypophosphatemic rickets, Dent disease 1, COL1A1, Caffey disease, OI types I, II, III, and IV, Ehlers-Danlos syndrome, Arthrochalasia type 1 , COL1A2, Ehlers-Danlos syndrome, Arthrochalasia type 2, CREB3L1, OI, type XVI, CRTAP, OI, type VII, CYP27B1, Vitamin D hydroxylation, FKBP10, Bruck syndrome 1, OI, type XI, GORAB, Geroderma osteodysplasticum, IFITM5, OI, type V, LRP5, Endosteal hyperostosis, Van Buchem disease, type 2, Osteoporosis-pseudoglioma syndrome, Exudative vitreoretinopathy 4, P3H1, OI, type VIII, P4HB, Cole-Carpenter syndrome 1, PLOD2, Bruck syndrome 2, PLS3, PPIB, OI, type IX, SEC24D, Cole-Carpenter syndrome 2, SERPINF1, OI, type VI, SERPINH1, OI, type X, SLC34A3, Hypophosphatemic rickets with hypercalciuria, hereditary, SP7, OI, type XII, SPARC, OI, type XVII, TMEM38B, OI, type XIV, WNT1, OI, type XV
3001607 Osteogenesis Imperfecta and Low Bone Density Panel, Sequencing ALPL, Hypophosphatasia, ANO5, Gnathodiaphyseal dysplasia, BMP1, OI, type XIII, CASR, Hyperparathyroidism, neonatal severe, CLCN5, Hypophosphatemic rickets, Dent disease 1, COL1A1, Caffey disease, OI types I, II, III, and IV, Ehlers-Danlos syndrome, Arthrochalasia type 1 , COL1A2, Ehlers-Danlos syndrome, Arthrochalasia type 2, CREB3L1, OI, type XVI, CRTAP, OI, type VII, CYP27B1, Vitamin D hydroxylation, FKBP10, Bruck syndrome 1, OI, type XI, GORAB, Geroderma osteodysplasticum, IFITM5, OI, type V, LRP5, Endosteal hyperostosis, Van Buchem disease, type 2, Osteoporosis-pseudoglioma syndrome, Exudative vitreoretinopathy 4, P3H1, OI, type VIII, P4HB, Cole-Carpenter syndrome 1, PLOD2, Bruck syndrome 2, PLS3, PPIB, OI, type IX, SEC24D, Cole-Carpenter syndrome 2, SERPINF1, OI, type VI, SERPINH1, OI, type X, SLC34A3, Hypophosphatemic rickets with hypercalciuria, hereditary, SP7, OI, type XII, SPARC, OI, type XVII, TMEM38B, OI, type XIV, WNT1, OI, type XV
Ovarian CancerOvarian Cancer, BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, HBOC, DICER1, MRE11, NF1, PMS2, RECQL, BRCA FGA, BRACA, HBOC, MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch, HNPCC DD, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Syndrome, PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
2012026 Hereditary Breast and Ovarian Cancer Panel, Sequencing and Deletion/Duplication Ovarian Cancer, BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, HBOC, DICER1, MRE11, NF1, PMS2, RECQL
3001855 BRCA1 and BRCA2-Associated HBOC Syndrome Panel, Sequencing and Deletion/Duplication Breast Cancer, Ovarian cancer
2012032 Hereditary Cancer Panel, Sequencing and Deletion/Duplication Breast Cancer, Ovarian Cancer, BRCA FGS, BRACA, HBOC, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PHOX2B, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication Ovarian Cancer, MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication Additional Technical Information Ovarian Cancer, MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication Additional Technical Information Ovarian Cancer, MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication Additional Technical Information Ovarian Cancer, PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
PancreatitisPancreatitis, SPINK1 FGS, Idiopathic pancreatitis, acute pancreatitis, N34S, PSTI, pancreatic secretory trypsin inhibitor, Idiopathic pancreatitis, CTRC Sequencing
2010876 Pancreatitis, Panel (CFTR, CTRC, PRSS1, SPINK1) Sequencing Pancreatitis,  
3001768 Pancreatitis (PRSS1) Sequencing and Deletion/Duplication Pancreatitis,  
2002012 Pancreatitis, (SPINK1) Sequencing   Pancreatitis, SPINK1 FGS, Idiopathic pancreatitis, acute pancreatitis, N34S, PSTI, pancreatic secretory trypsin inhibitor
2010703 Pancreatitis (CTRC) Sequencing   Pancreatitis, Idiopathic pancreatitis, CTRC Sequencing
Periodic Fever SyndromesPeriodic Fever Syndromes, FMF FGS, DNA, PRFEVERPAN, MEFV, MVK, LPIN2, TNFRSF1A, NLRP3, CIAS1, ELANE, ELA2, PSTPIP1, pyrin, mevalonate kinase, lipin-2, tumor necrosis factor receptor 1, cryopyrin, neutrophil elastase, proline-serine-threonine phosphatase-interacting protein 1, CD2-binding protein 1, Familial Mediterranean Fever, FMF, Hyperimmunoglobulinemia D syndrome, HIDS, Majeed Syndrome, TRAPS, Familial Cold Autoinflammatory Syndrome, FCAS, Muckle-Wells Syndrome, neonatal onset multisystem inflammatory disease, NOMID, chronic infantile neurological cutaneous and articular syndrome, CINCA, Severe Congenital Neutropenia, Cyclic Neutropenia, Kostmann syndrome, genetic infantile agranulocytosis, Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, Acne, PAPA ELANE/ELA2, LPIN2, MEFV, MVK, NLRP3/CIAS1, PSTPIP1, TNFRSF1A, chronic infantile neurological cutaneous and articular syndrome (CINCA), Cyclic Neutropenia, Familial Cold Autoinflammatory Syndrome (FCAS), Familial Mediterranean Fever (FMF), Hyperimmunoglobulinemia D syndrome (HIDS), Majeed Syndrome, Muckle-Wells Syndrome, neonatal onset multisystem inflammatory disease (NOMID), Severe Congenital Neutropenia, [Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, Acne, (PAPA)], Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
2002658 Familial Mediterranean Fever (MEFV) Sequencing Periodic Fever Syndromes, FMF FGS, DNA
2007370 Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication Periodic Fever Syndromes, PRFEVERPAN, MEFV, MVK, LPIN2, TNFRSF1A, NLRP3, ELANE, PSTPIP1, pyrin, mevalonate kinase, lipin-2, tumor necrosis factor receptor 1, cryopyrin, neutrophil elastase, proline-serine-threonine phosphatase-interacting protein 1, CD2-binding protein 1, Familial Mediterranean Fever, FMF, Hyperimmunoglobulinemia D syndrome, HIDS, Majeed Syndrome, TRAPS, Familial Cold Autoinflammatory Syndrome, FCAS, Muckle-Wells Syndrome, neonatal onset multisystem inflammatory disease, NOMID, chronic infantile neurological cutaneous and articular syndrome, CINCA, Severe Congenital Neutropenia, Cyclic Neutropenia, Kostmann syndrome, genetic infantile agranulocytosis, Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, Acne, PAPA ELANE, LPIN2, MEFV, MVK, NLRP3, PSTPIP1, TNFRSF1A, chronic infantile neurological cutaneous and articular syndrome (CINCA), Cyclic Neutropenia, Familial Cold Autoinflammatory Syndrome (FCAS), Familial Mediterranean Fever (FMF), Hyperimmunoglobulinemia D syndrome (HIDS), Majeed Syndrome, Muckle-Wells Syndrome, neonatal onset multisystem inflammatory disease (NOMID), Severe Congenital Neutropenia, [Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, Acne, (PAPA)], Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), NLRP1, NOD2, TNFAIP3
Peroxisomal DisordersPeroxisomal Disorders, VLCFA Adrenoleukodystrophy, X-Linked X-ALD Adrenomyeloneuropathy ABCD1 ATP-binding cassette sub-family D member 1 XALD X ALD ABCD 1 Peroxisomal Bifunctional Enzyme Deficiency HSD17B4 Peroxisomal multifunctional enzyme type 2 Pseudoneonatal Adrenoleukodystrophy Peroxisomal Acyl-CoA Oxidase Deficiency ACOX1 Peroxisomal acyl-coenzyme A oxidase 1 Refsum Disease Adult Refsum Disease Hereditary Motor and Sensory Neuropathy IV Phytanic Acid Oxidase Deficiency Phytanic Acid Storage Disease Refsum Syndrome PEX7-Related Refsum Disease PHYH-Related Refsum Disease PEX7 Peroxisomal targeting signal 2 receptor PHYH Phytanoyl-CoA dioxygenase, peroxisomal Zellweger Syndrome Spectrum Neonatal Adrenoleukodystrophy Refsum Disease, Infantile Zellweger Syndrome PEX1 Peroxisome biogenesis factor 1 PEX10 Peroxisome assembly protein 10 PEX12 Peroxisome assembly protein 12 PEX13 Peroxisomal membrane protein PEX13 PEX14 Peroxisomal membrane protein PEX14 PEX16 Peroxisomal membrane protein PEX16 PEX19 Peroxisomal biogenesis factor 19 PEX2 Peroxisome assembly factor 1 PEX26 Peroxisome assembly protein 26 PEX3 Peroxisomal biogenesis factor 3 PEX5 Peroxisomal targeting signal 1 receptor PEX6 Peroxisome assembly factor 2 ZSS NALD IRD Infantile Refsum
2004250 Very Long-Chain and Branched-Chain Fatty Acids Profile Peroxisomal Disorders, VLCFA Adrenoleukodystrophy, X-Linked X-ALD Adrenomyeloneuropathy ABCD1 ATP-binding cassette sub-family D member 1 XALD X ALD ABCD 1 Peroxisomal Bifunctional Enzyme Deficiency HSD17B4 Peroxisomal multifunctional enzyme type 2 Pseudoneonatal Adrenoleukodystrophy Peroxisomal Acyl-CoA Oxidase Deficiency ACOX1 Peroxisomal acyl-coenzyme A oxidase 1 Refsum Disease Adult Refsum Disease Hereditary Motor and Sensory Neuropathy IV Phytanic Acid Oxidase Deficiency Phytanic Acid Storage Disease Refsum Syndrome PEX7-Related Refsum Disease PHYH-Related Refsum Disease PEX7 Peroxisomal targeting signal 2 receptor PHYH Phytanoyl-CoA dioxygenase, peroxisomal Zellweger Syndrome Spectrum Neonatal Adrenoleukodystrophy Refsum Disease, Infantile Zellweger Syndrome PEX1 Peroxisome biogenesis factor 1 PEX10 Peroxisome assembly protein 10 PEX12 Peroxisome assembly protein 12 PEX13 Peroxisomal membrane protein PEX13 PEX14 Peroxisomal membrane protein PEX14 PEX16 Peroxisomal membrane protein PEX16 PEX19 Peroxisomal biogenesis factor 19 PEX2 Peroxisome assembly factor 1 PEX26 Peroxisome assembly protein 26 PEX3 Peroxisomal biogenesis factor 3 PEX5 Peroxisomal targeting signal 1 receptor PEX6 Peroxisome assembly factor 2 ZSS NALD IRD Infantile Refsum
Peutz-JeghersPeutz-Jeghers, STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation
2008398 Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication Peutz-Jeghers, STK11, STK11 FGA, hamartomatous polyps, mucocutaneous hypergigmentation
PhenylalaninePhenylalanine, PHE/TYR, PKU, QNTPHE, PKU
0080336 Phenylalanine and Tyrosine, Plasma (monitoring only)   Phenylalanine, PHE/TYR, PKU
0080315 Phenylalanine Monitoring, Plasma (monitoring only)   Phenylalanine, QNTPHE, PKU
Pipecolic AcidPipecolic Acid, PIPECOL SP, peroxisome, Zellweger, Neonatal Adrenoleukodystrophy, Refsum, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PBD Peroxisome Biogenesis, ZSS, NALD, IRD
2007406 Pipecolic Acid, Serum or Plasma Pipecolic Acid, PIPECOL SP, peroxisome, Zellweger, Neonatal Adrenoleukodystrophy, Refsum, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PBD Peroxisome Biogenesis, ZSS, NALD, IRD
2008131 Pipecolic Acid, Urine   Pipecolic Acid, PIPECOL U, Peroxisome, Zellweger, Neonatal Adrenoleukodystrophy, Refsum, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PBD
Plasminogen Activator Inhibitor-1Plasminogen Activator Inhibitor-1, PAI-1 GENO, Fibrinolytic, thrombosis-associated PAI-1 activity, serpin peptidase inhibitor, 4G/4G, 4G/5G, thrombotic risk, pharmacogenetics, PGX
2004980 Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping Plasminogen Activator Inhibitor-1, PAI-1 GENO, Fibrinolytic, thrombosis-associated PAI-1 activity, serpin peptidase inhibitor, 4G/4G, 4G/5G, thrombotic risk, pharmacogenetics, PGX
Platelet Antigen GenotypingPlatelet Antigen Genotyping, HPA PAN, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT, HPA1,
3000193 Platelet Antigen Genotyping Panel Platelet Antigen Genotyping, HPA PAN, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT, HPA-1, HPA-2, HPA-3, HPA-4, HPA-5, HPA-6, HPA-15
3001170 Platelet Antigen 1 Genotyping (HPA-1)   Platelet Antigen Genotyping, HPA1, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
Polycystic Kidney DiseasePolycystic Kidney Disease, ADPKD FGA Autosomal dominant polycystic kidney disease Polycystic kidney disease 1 Polycystic kidney disease type 1 Polycystic kidney disease 2 ADPKD Autosomal dominant polycystic kidney disease Polycystic kidney disease 1 Polycystic kidney disease type 1 Polycystic kidney disease 2 Polycystic kidney disease type 2 DPKD Autosomal dominant polycystic kidney disease Polycystic kidney disease 1 Polycystic kidney disease type 1 Polycystic kidney disease 2 Polycystic kidney disease type 2 Adult polycystic kidney disease (APKD)
2012250 Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing and Deletion/Duplication Polycystic Kidney Disease, ADPKD FGA Autosomal dominant polycystic kidney disease Polycystic kidney disease 1 Polycystic kidney disease type 1 Polycystic kidney disease 2 ADPKD Autosomal dominant polycystic kidney disease Polycystic kidney disease 1 Polycystic kidney disease type 1 Polycystic kidney disease 2 Polycystic kidney disease type 2 DPKD Autosomal dominant polycystic kidney disease Polycystic kidney disease 1 Polycystic kidney disease type 1 Polycystic kidney disease 2 Polycystic kidney disease type 2 Adult polycystic kidney disease (APKD)
2012255 Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing   Polycystic Kidney Disease, ADPKD FGS ADPKD Autosomal dominant polycystic kidney disease Polycystic kidney disease 1 Polycystic kidney disease type 1 Polycystic kidney disease 2 Polycystic kidney disease type 2 Adult polycystic kidney disease (APKD)
Pompe DiseasePompe Disease, Pompe Disease
2014463 Pompe Disease (GAA), Enzyme Activity in Leukocytes   Pompe Disease,  
Prader-Willi SyndromePrader-Willi Syndrome, AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments, UBE3A, PWS; D15S10, AS PWS FE Prader-Labhart-Willi Syndrome, AS, PWS
2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation Prader-Willi Syndrome, AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments, UBE3A
2002299 Chromosome FISH, Metaphase—Prader-Willi syndrome (15q11.2-13)   Prader-Willi Syndrome, PWS; D15S10
2012232 Angelman Syndrome and Prader-Willi Syndrome by Methylation, Fetal   Prader-Willi Syndrome, AS PWS FE Prader-Labhart-Willi Syndrome, AS, PWS, UBE3A
Primary Antibody DeficiencyPrimary Antibody Deficiency, PAD PANEL, ADA, AICDA, ATM, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, ICOS, IGHM, IGLL1, IKBKG, LRBA, LRRC8A, MS4A1, NBN/NBS1, NFKB2, NFKBIA, PIK3CD, PIK3R1, PLCG2, PRKCD, RAG2, SH2D1A, TNFRSF13B, TNFRSF13C, UNG, VAV1, XIAP/BIRC4, CVID, common variable immunodeficiency, common variable immune deficiency, common variable hypogammaglobulinemia, IgA deficiency, selective IgA deficiency, selective IgM deficiency, IgG deficiency, IgG subclass deficiency, hypogammaglobulinemia, agammaglobulinemia, panhypogammaglobulinemia, Hyper-IgM syndrome, HIGM syndrome, HIGM1, HIGM2, HIGM3, HIGM4, HIGM5, immunoglobulin class-switch deficiency, selective antibody deficiency, anti-polysaccharide antibody deficiency, late-onset combined immunodeficiency, late-onset immunoglobulin deficiency, B cell deficiency, ADA2, ATP6AP1, CARD11, CD27, CD70, CDCA7, CTLA4, CXCR4, DCLRE1C, DNMT3B, GATA2, HELLS, IKZF1, IL21, IL21R, INO80, IRF2BP2, KDM6A, KMT2D, MALT1, MAP3K14, MOGS, NFKB1, PIK3CG, RAC2, RAG1, RNF168, STAT3, TCF3, TNFSF12, TRNT1, TTC37, ZBTB24
2011156 Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Primary Antibody Deficiency, PAD PANEL, ADA, AICDA, ATM, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, ICOS, IGHM, IGLL1, IKBKG, LRBA, LRRC8A, MS4A1, NBN/NBS1, NFKB2, NFKBIA, PIK3CD, PIK3R1, PLCG2, PRKCD, RAG2, SH2D1A, TNFRSF13B, TNFRSF13C, UNG, VAV1, XIAP/BIRC4, CVID, common variable immunodeficiency, common variable immune deficiency, common variable hypogammaglobulinemia, IgA deficiency, selective IgA deficiency, selective IgM deficiency, IgG deficiency, IgG subclass deficiency, hypogammaglobulinemia, agammaglobulinemia, panhypogammaglobulinemia, Hyper-IgM syndrome, HIGM syndrome, HIGM1, HIGM2, HIGM3, HIGM4, HIGM5, immunoglobulin class-switch deficiency, selective antibody deficiency, anti-polysaccharide antibody deficiency, late-onset combined immunodeficiency, late-onset immunoglobulin deficiency, B cell deficiency, ADA2, ATP6AP1, CARD11, CD27, CD70, CDCA7, CTLA4, CXCR4, DCLRE1C, DNMT3B, GATA2, HELLS, IKZF1, IL21, IL21R, INO80, IRF2BP2, KDM6A, KMT2D, MALT1, MAP3K14, MOGS, NFKB1, PIK3CG, RAC2, RAG1, RNF168, STAT3, TCF3, TNFSF12, TRNT1, TTC37, ZBTB24
Prothrombin (Factor II)Prothrombin (Factor II), PT PCR, F2, G20210A, thrombosis, plasma prothrombin, thrombophilia, clotting
0056060 Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II) Prothrombin (Factor II), PT PCR, F2, G20210A, thrombosis, plasma prothrombin, thrombophilia, clotting
PTEN-Related DisordersPTEN-Related Disorders, PTEN FGS, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication PTEN-Related Disorders, PTEN FGA, PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
Pulmonary Arterial Hypertension (PAH)Pulmonary Arterial Hypertension (PAH), BMPR2 FGA, PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH, PAH PANEL, ACVRL1/ALK1, BMPR2, CAV1, ENG, KCNK3, EIF2AK4
2009345 Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication Pulmonary Arterial Hypertension (PAH), PAH PANEL, ACVRL1/ALK1, BMPR2, CAV1, ENG, KCNK3, EIF2AK4
Pyruvate Kinase DeficiencyPyruvate Kinase Deficiency, PK
3002059 Pyruvate Kinase Deficiency (PKLR) Sequencing Pyruvate Kinase Deficiency, PK
Rapid SequencingRapid Sequencing, RAPID SEQ, Critical Care Sequencing Panel, NICU Sequencing Panel
2012849 Rapid Mendelian Genes Sequencing Panel, Trio Rapid Sequencing, RAPID SEQ, Critical Care Sequencing Panel, NICU Sequencing Panel
Renal CancerRenal Cancer, VHL FGA, Brain Tumors, Pheochromocytoma, Congenital polycythemia, RENCAPAN, RENCAPAN, renal, cancer, BAP1, FH, FLCN, MET, MLH1, MSH2, MSH6, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, leiomyomatosis, Mesothelioma, birt-hogg-dube, HNPCC, lynch, Cowden, Bannayan-Riley-Ruvalcaba, Proteus, Li-Fraumeni, Tuberous sclerosis, Von Hippel BAP1, FH, FLCN, MET, MLH1, MSH2, MSH6, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, Birt-Hogg-Dube, leiomyomatosis, mesothelioma, tuberous sclerosis (TS), von Hippel-Lindau, CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel, TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
2002965 Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication Renal Cancer, VHL FGA, Brain Tumors, Pheochromocytoma
2002970 Von Hippel-Lindau (VHL) Sequencing   Renal Cancer, VHL FGS, Congenital polycythemia
2010214 Hereditary Renal Cancer Panel, Sequencing and Deletion/Duplication Renal Cancer, RENCAPAN, RENCAPAN, renal, cancer, BAP1, FH, FLCN, MET, MLH1, MSH2, MSH6, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, leiomyomatosis, Mesothelioma, birt-hogg-dube, HNPCC, lynch, Cowden, Bannayan-Riley-Ruvalcaba, Proteus, Li-Fraumeni, Tuberous sclerosis, Von Hippel BAP1, FH, FLCN, MET, MLH1, MSH2, MSH6, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, Birt-Hogg-Dube, leiomyomatosis, mesothelioma, tuberous sclerosis (TS), von Hippel-Lindau, DICER1, PMS2, SMARCA4, SMARCB1, VHL, WT1
2012032 Hereditary Cancer Panel, Sequencing and Deletion/Duplication Renal Cancer, CANCERPAN, Lynch syndrome, breast cancer, multiple endocrine neoplasia, melanoma, retinoblastoma, paraganglioma, Li-Fraumeni, familial adenomatous polyposis, Peutz-Jegher, HNPCC, inherited cancer, renal cancer, GI cancer, colorectal cancer, NGS cancer panel, ovarian cancer, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PHOX2B, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, RB1, RECQL, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1
2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication Renal Cancer, TP53 FGA, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret
Rett SyndromeRett Syndrome, RETT FGS, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
0051614 Rett Syndrome (MECP2), Full Gene Analysis Rett Syndrome, RETT FGA, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
Rh GenotypingRh Genotyping, RHD, Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic, RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility, RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
0051368 Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) Rh Genotyping, RHD, Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic
3002002 RhC/c (RHCE) Antigen Genotyping Rh Genotyping, RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
3002003 RhE/e (RHCE) Antigen Genotyping Rh Genotyping, RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
3003144 Deletion/Duplication Analysis by MLPA   ABCD1, ACADVL, ACVRL1, APC, ATP7A, BMPR1A, BRCA1, BRCA2, CFTR, COL4A5, ENG, F8, F9, FBN1, HBB, MECP2, MEN1, MLH1, MSH2, MSH6, NF1, OTC, PKD1, PKD2, PLOD1, PMS2, PRSS1, PTEN, RASA1, SDHB, SDHC, SDHD, SLC22A5, SHOX, SMAD4, SPINK1, SPRED1, STK11, TP53, VHL
Schwachman-Diamond SyndromeSchwachman-Diamond Syndrome, SBDS FGS, GeneDx
2006240 Schwachman-Diamond Syndrome (SBDS) Sequencing Schwachman-Diamond Syndrome, SBDS FGS, GeneDx
Serum Screening—First- and Second-Trimester CombinedSerum Screening—First- and Second-Trimester Combined, MS INT1, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, two part screen, first trimester
3000147 Maternal Serum Screening, Integrated, Specimen #1, PAPP-A, NT Serum Screening—First- and Second-Trimester Combined, MS INT1, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, two part screen, first trimester
3000149 Maternal Serum Screening, Integrated, Specimen #2, Alpha Fetoprotein, hCG, Estriol, and Inhibin A Serum Screening—First- and Second-Trimester Combined, MS INT2, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
3000146 Maternal Screening, Sequential, Specimen #1, hCG, PAPP-A, NT Serum Screening—First- and Second-Trimester Combined, MS SEQ1, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, two part screen, first trimester
3000148 Maternal Screening, Sequential, Specimen #2, Alpha Fetoprotein, hCG, Estriol, and Inhibin A Serum Screening—First- and Second-Trimester Combined, MS SEQ2, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
Serum Screening—First-TrimesterSerum Screening—First-Trimester, MS FTS, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, hCG
3000145 Maternal Serum Screen, First Trimester, hCG, PAPP-A, NT Serum Screening—First-Trimester, MS FTS, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, hCG
Serum Screening—Second-TrimesterSerum Screening—Second-Trimester, MS AFP, Prenatal Screening, NTD, neural tube defects, second trimester, MS QUAD, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
3000144 Maternal Serum Screen, Alpha Fetoprotein   Serum Screening—Second-Trimester, MS AFP, Prenatal Screening, NTD, neural tube defects, second trimester
3000143 Maternal Serum Screen, Alpha Fetoprotein, hCG, Estriol, and Inhibin A (Quad) Serum Screening—Second-Trimester, MS QUAD, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
SHOX-Related DisordersSHOX-Related Disorders, Langer mesomelic dysplasia (LMD), Leri-Weill dyschondrosteosis (LWD), ISS, LWD, LMD, short stature, haploinsufficiency
3001401 SHOX-Related Disorders, Deletion/Duplication with Reflex to Sequencing SHOX-Related Disorders, Langer mesomelic dysplasia (LMD), Leri-Weill dyschondrosteosis (LWD), ISS, LWD, LMD, short stature, haploinsufficiency
3003144 Deletion/Duplication Analysis by MLPA   ABCD1, ACADVL, ACVRL1, APC, ATP7A, BMPR1A, BRCA1, BRCA2, CFTR, COL4A5, ENG, F8, F9, FBN1, HBB, MECP2, MEN1, MLH1, MSH2, MSH6, NF1, OTC, PKD1, PKD2, PLOD1, PMS2, PRSS1, PTEN, RASA1, SDHB, SDHC, SDHD, SLC22A5, SHOX, SMAD4, SPINK1, SPRED1, STK11, TP53, VHL
Skeletal DysplasiaSkeletal Dysplasia, SKEL FE, chondrodysplasia, osteogenesis imperfecta, achondrogenesis, hypophosphatasia, Kniest, pseudoachondroplasia, spondylocostal sysostosis, short rib thoracic dystrophy, short rib polydactaly, Ellis van Crevald, achondroplasia, frontometaphyseal dysplasia, atelosteogenesis, dyssegmental dysplasia, Sliverman-Handmaker, Schwartz-Jampel, Asphyxiatic thoracic dystrophy, Greenburg dysplasia, Stuve-Wiedeman, Antely Bixler, cleidocranial dysplasia, diastrophic dysplasia, metaphyseal dysplasia, schneckenbecken, metrotrophic dysplasia, cranioectodermal dysplasia, sensenbrenner, Jeune, AGPS, ALPL, ARSE, COL1A1, COL1A2, COL2A1, COMP, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, HSPG2, IFT80, LBR, LIFR, NEK1, P3H1, PEX7, POR, PPIB, RUNX2, SERPINH1, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4, TTC21B, WDR19, WDR35, CANT1, DDR2, GDF5, ICK, P3H1, PCNT, PTH1R, SKEL PANEL
2012010 Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Skeletal Dysplasia, SKEL FE, chondrodysplasia, osteogenesis imperfecta, achondrogenesis, hypophosphatasia, Kniest, pseudoachondroplasia, spondylocostal sysostosis, short rib thoracic dystrophy, short rib polydactaly, Ellis van Crevald, achondroplasia, frontometaphyseal dysplasia, atelosteogenesis, dyssegmental dysplasia, Sliverman-Handmaker, Schwartz-Jampel, Asphyxiatic thoracic dystrophy, Greenburg dysplasia, Stuve-Wiedeman, Antely Bixler, cleidocranial dysplasia, diastrophic dysplasia, metaphyseal dysplasia, schneckenbecken, metrotrophic dysplasia, cranioectodermal dysplasia, sensenbrenner, Jeune, AGPS, ALPL, ARSE, COL1A1, COL1A2, COL2A1, COMP, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, HSPG2, IFT80, LBR, LIFR, NEK1, P3H1, PEX7, POR, PPIB, RUNX2, SERPINH1, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4, TTC21B, WDR19, WDR35, CANT1, DDR2, GDF5, ICK, P3H1, PCNT, PTH1R
2012015 Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication   Skeletal Dysplasia, SKEL PANEL, chondrodysplasia, osteogenesis imperfecta, achondrogenesis, hypophosphatasia, Kniest, pseudoachondroplasia, spondylocostal sysostosis, short rib thoracic dystrophy, short rib polydactaly, Ellis van Crevald, achondroplasia, frontometaphyseal dysplasia, atelosteogenesis, dyssegmental dysplasia, Sliverman-Handmaker, Schwartz-Jampel, Asphyxiatic thoracic dystrophy, Greenburg dysplasia, Stuve-Wiedeman, Antely Bixler, cleidocranial dysplasia, diastrophic dysplasia, metaphyseal dysplasia, schneckenbecken, metrotrophic dysplasia, cranioectodermal dysplasia, sensenbrenner, Jeune, AGPS, ALPL, ARSE, COL1A1, COL1A2, COL2A1, COMP, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, HSPG2, IFT80, LBR, LIFR, NEK1, PEX7, POR, PPIB, RUNX2, SERPINH1, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4, TTC21B, WDR19, WDR35, CANT1, DDR2, GDF5, ICK, P3H1, PCNT, PTH1R
Smith-Lemli-Opitz SyndromeSmith-Lemli-Opitz Syndrome, DHCR7 FGS, SLO, SLOS, Smith Lemli Opitz, SLO syndrome
2011457 Smith-Lemli-Opitz Syndrome (DHCR7) Sequencing Smith-Lemli-Opitz Syndrome, DHCR7 FGS, SLO, SLOS, Smith Lemli Opitz, SLO syndrome
Spinal Muscular Atrophy (SMA)Spinal Muscular Atrophy (SMA), SMA DD, SMA DD FE, SMN1, SMN2
2013436 Spinal Muscular Atrophy (SMA) Copy Number Analysis Spinal Muscular Atrophy (SMA), SMA DD, SMN1, SMN2
2013444 Spinal Muscular Atrophy (SMA) Copy Number Analysis, Fetal   Spinal Muscular Atrophy (SMA), SMA DD FE, SMN1, SMN2
Statin SensitivityStatin Sensitivity, SLCO1B1, stimvastatin, Solute Carrier Organic Anion Transporter Family Member 1B1, rs4149056C, SLCO1B1*5, OATP1B1, organic anion-transporter polypeptide 1B1, pharmacogenetics, PGX
2008426 SLCO1B1, 1 Variant Statin Sensitivity, SLCO1B1, stimvastatin, Solute Carrier Organic Anion Transporter Family Member 1B1, rs4149056C, SLCO1B1*5, OATP1B1, organic anion-transporter polypeptide 1B1, pharmacogenetics, PGX
Stickler Syndrome
3001613 Stickler Syndrome Panel, Sequencing achondrogenesis,fibrochondrogenesis,Kneist dysplasia,Legg-Calve-Perthes disease, Marshall syndrome,multiple epiphyseal dysplasia,otospondylomegaepiphyseal dysplasia,platyspondylic lethal skeletal dysplasia,spondyloepiphyseal dysplasia,spondyloperipheral dysplasia, type II collagenopathy,Wagner vitreoretinopathy,COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, VCAN
SuccinylacetoneSuccinylacetone, Tyrosinemia Type I, FAH, Fumarylacetoacetase, Fumarylacetoacetate Hydrolase, Hepatorenal, SUAC URINE
2007401 Succinylacetone, Quantitative, Urine Succinylacetone, Tyrosinemia Type I, FAH, Fumarylacetoacetase, Fumarylacetoacetate Hydrolase, Hepatorenal, SUAC URINE
Tay-Sachs DiseaseTay-Sachs Disease, HEXO RFLX, Tay-Sachs, HEX A Deficiency, GM2 Gangliosidosis, HEXA, HEXOA LEUK, HEXA FGS, HEXA, Jewish Genetic, Hex A, GM2 gangliosidosis, hexosaminidase, lysosomal storage, delta 7.6kb, IVS9(+1)G>A, 1278insTATC, IVS12(+1)G>C, G269S, R247W, R249W, Ashkenazi Jewish
2008129 Hexosaminidase A and Total Hexosaminidase in Plasma with Reflex to Hexosaminidase A and Total Hexosaminidase in Leukocytes Tay-Sachs Disease, HEXO RFLX, Tay-Sachs, HEX A Deficiency, GM2 Gangliosidosis, HEXA
2008121 Hexosaminidase A and Total Hexosaminidiase, Plasma or Serum   Tay-Sachs Disease, HEXOS A P/S, Tay-Sachs, HEX A Deficiency, GM2 Gangliosidosis, HEXA
2008125 Hexosaminidase A and Total Hexosaminidase in Leukocytes   Tay-Sachs Disease, HEXOA LEUK, Tay-Sachs, HEX A Deficiency, GM2 Gangliosidosis, HEXA
2009298 Tay-Sachs Disease (HEXA) Sequencing and 7.6kb Deletion Tay-Sachs Disease, HEXA FGS
0051428 Tay-Sachs Disease (HEXA), 7 Variants Tay-Sachs Disease, HEXA, Jewish Genetic, Hex A, GM2 gangliosidosis, hexosaminidase, lysosomal storage, delta 7.6kb, IVS9(+1)G>A, 1278insTATC, IVS12(+1)G>C, G269S, R247W, R249W, Ashkenazi Jewish
Thanatophoric DysplasiaThanatophoric Dysplasia, TD PAN, Skeletal Dysplasias, thanatophoric dysplasia, TD1, TD2, R248C, S249C, G370C, S371C, Y373C, K650E, X807G, X807R, X807S, X807L, X807C, X807W, dwarfism
0051506 Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations Thanatophoric Dysplasia, TD PAN, Skeletal Dysplasias, thanatophoric dysplasia, TD1, TD2, R248C, S249C, G370C, S371C, Y373C, K650E, X807G, X807R, X807S, X807L, X807C, X807W, dwarfism
0051508 Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations, Fetal Thanatophoric Dysplasia, TD PAN FE, Skeletal Dysplasias, thanatophoric dysplasia, TD1, TD2, R248C, S249C, G370C, S371C, Y373C, K650E, X807G, X807R, X807S, X807L, X807C, X807W, dwarfism
Thiopurine MethyltransferaseThiopurine Methyltransferase, 6-mercaptopurine, 6-MP, 6-TG, 6-thioguanine, AZA toxicity, Azathioprine, S-adenosyl-L-methionine genotype, Thioguanine, Thiopurine, nudix, pharmacogenetics, PGX
3001535 TPMT and NUDT15 Thiopurine Methyltransferase, 6-mercaptopurine, 6-MP, 6-TG, 6-thioguanine, AZA toxicity, Azathioprine, S-adenosyl-L-methionine genotype, Thioguanine, Thiopurine, nudix, pharmacogenetics, PGX
Thrombotic RiskThrombotic Risk, THROM COM, Venous thrombosis, Thromboembolism, Thrombophilia, Factor V Leiden, F5, R506Q, F2, G20210A, thrombosis, plasma prothrombin, clotting, THROMDNA, Thrombophilia, cardiovascular, C677T, A1298C, F2, G20210A, thrombosis, plasma prothrombin, Factor V Leiden, F5, R506Q, methylenetetrahydrofolate reductase, venous thrombosis, thromboembolism, clotting
0030133 Thrombotic Risk, Inherited Etiologies (Most Common) with Reflex to Factor V Leiden Thrombotic Risk, THROM COM, Venous thrombosis, Thromboembolism, Thrombophilia, Factor V Leiden, F5, R506Q, F2, G20210A, thrombosis, plasma prothrombin, clotting
0056200 Thrombotic Risk, DNA Panel (FVL, Factor II, MTHFR)   Thrombotic Risk, THROMDNA, Thrombophilia, cardiovascular, C677T, A1298C, F2, G20210A, thrombosis, plasma prothrombin, Factor V Leiden, F5, R506Q, methylenetetrahydrofolate reductase, venous thrombosis, thromboembolism, clotting
Tuberous Sclerosis Complex
3002100 Tuberous Sclerosis Complex Panel, Sequencing and Deletion/Duplication TSC1, TSC2
3002096 Tuberous Sclerosis Complex Panel, Sequencing and Deletion/Duplication, Fetal TSC1, TSC2
Twin Zygosity TestingTwin Zygosity Testing, TWIN ZYG, Fetal zygosity, mono/dizygotic differentiation
0050547 Twin Zygosity (16 markers)   Twin Zygosity Testing, TWIN ZYG, Fetal zygosity, mono/dizygotic differentiation
TyrosineTyrosine, TYRO, Tyrosinemia
0080355 Tyrosine, Plasma   Tyrosine, TYRO, Tyrosinemia
UGT1A1 Gene AnalysisUGT1A1 Gene Analysis, Crigler-Najjar type 1 (CN1), Crigler-Najjar type 2 (CN2), Irinotecan, Pharmacogenetics (PGx), UGT1A1, Irinotecan, Pharmacogenetics (PGx), Colorectal Cancer
3001755 UGT1A1 Sequencing UGT1A1 Gene Analysis, Crigler-Najjar type 1 (CN1), Crigler-Najjar type 2 (CN2), Irinotecan, Pharmacogenetics (PGx)
0051332 UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping UGT1A1 Gene Analysis, UGT1A1, Irinotecan, Pharmacogenetics (PGx), Colorectal Cancer
Vascular Malformation SyndromesVascular Malformation Syndromes, VACS PANEL, RASA1, ENG, ACVRL1/ALK1, SMAD4, PTEN, TIE2/TEK, GLMN, KRIT1/CCM1, CCM2, CCM3, capillary malformation, telangiectasia, arteriovenous malformation, AVM, HHT, hereditary hemorrhagic telangiectasia, Parkes Weber, CM-AVM, Multiple cutaneous and mucosal, VMCM, Proteus, PS, cavernous, venous, glomuvenous, GVM ACVRL1/ALK1, BMP9/GDF2, BMPR2, CAV1, CCM1/KRIT1, CCM2, CCM3/PDCD10, ENG, GLMN, KCNK3, PTEN, RASA1, SMAD4, TEK/TIE2, CM-AVM, Parkes Weber syndrome (PKWS), Proteus (PS), BMPR2, CAV1, CCBE1, CCM2, EIF2AK4, ELMO2, EPHB4, FAT4, FLT4, FOXC2, GATA2, GDF2, GJC2, KCNK3, PDCD10, PIEZO1, PIK3CA, SMAD9, SOX18, STAMBP, VEGFC, HHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4, RASA1 FGA, RASA1, CM-AVM, Parkes Weber, RASA1 FGS, Capillary-ateriovenous malformations, vascular malformations, CM, port-wine stain, arteriovenous malformations, AVM, CM-AVM, Parkes-Weber, PKWS, BMP9 FGS, capillary malformations, HHT, HHT5
2007384 Vascular Malformations Panel, Sequencing and Deletion/Duplication Vascular Malformation Syndromes, VACS PANEL, RASA1, ENG, ACVRL1/ALK1, SMAD4, PTEN, TIE2/TEK, GLMN, KRIT1/CCM1, CCM2, CCM3, capillary malformation, telangiectasia, arteriovenous malformation, AVM, HHT, hereditary hemorrhagic telangiectasia, Parkes Weber, CM-AVM, Multiple cutaneous and mucosal, VMCM, Proteus, PS, cavernous, venous, glomuvenous, GVM ACVRL1/ALK1, BMP9/GDF2, BMPR2, CAV1, CCM1/KRIT1, CCM2, CCM3/PDCD10, ENG, GLMN, KCNK3, PTEN, RASA1, SMAD4, TEK/TIE2, CM-AVM, Parkes Weber syndrome (PKWS), Proteus (PS), BMPR2, CAV1, CCBE1, CCM2, EIF2AK4, ELMO2, EPHB4, FAT4, FLT4, FOXC2, GATA2, GDF2, GJC2, KCNK3, PDCD10, PIEZO1, PIK3CA, SMAD9, SOX18, STAMBP, VEGFC
2009337 Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication   Vascular Malformation Syndromes, HHT PANEL, ACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4, EPHB4, vascular malformation
3002286 Cerebral Cavernous Malformation Panel, Sequencing and Deletion/Duplication Cerebral Cavernous Malformation, Cerebral, CCM, Vascular, Malformation(s), CCM2, KRIT1, PDCD10
3003634 Capillary Malformation-Arteriovenous Malformation (CM-AVM) Panel, Sequencing and Deletion/Duplication RASA1-Related Disorders, RASA1 FGA, RASA1, CM-AVM, Parkes Weber
2010015 Telangiectasia Syndrome (BMP9/GDF2) Sequencing Vascular Malformation Syndromes, BMP9 FGS, capillary malformations, HHT, HHT5
3003144 Deletion/Duplication Analysis by MLPA   ABCD1, ACADVL, ACVRL1, APC, ATP7A, BMPR1A, BRCA1, BRCA2, CFTR, COL4A5, ENG, F8, F9, FBN1, HBB, MECP2, MEN1, MLH1, MSH2, MSH6, NF1, OTC, PKD1, PKD2, PLOD1, PMS2, PRSS1, PTEN, RASA1, SDHB, SDHC, SDHD, SLC22A5, SHOX, SMAD4, SPINK1, SPRED1, STK11, TP53, VHL
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD), VLCAD FGA, VLCAD FGS
2004212 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD), VLCAD FGA
Von Hippel-Lindau/Congenital PolycythemiaVon Hippel-Lindau/Congenital Polycythemia, VHL FGA, Brain Tumors, Pheochromocytoma, Congenital polycythemia
2002965 Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication Von Hippel-Lindau/Congenital Polycythemia, VHL FGA, Brain Tumors, Pheochromocytoma
2002970 Von Hippel-Lindau (VHL) Sequencing   Von Hippel-Lindau/Congenital Polycythemia, VHL FGS, Congenital polycythemia
Von Willebrand Diseasevon Willebrand Disease, VWF2A SEQ, VWD, bleeding, GP1BA SEQ
2005480 von Willebrand Disease, Type 2A (VWF) Sequencing Exon 28 with Reflex to 9 Exons von Willebrand Disease, VWF2A SEQ, VWD, bleeding
2005494 von Willebrand Disease, Type 2N (VWF) Sequencing   von Willebrand Disease, VWF2N SEQ, VWD, bleeding
2005490 von Willebrand Disease, Type 2M (VWF) Sequencing   von Willebrand Disease, VWF2M SEQ, VWD, bleeding
2005486 von Willebrand Disease, Type 2B (VWF) Sequencing   von Willebrand Disease, VWF2B SEQ, VWD, bleeding
2005476 von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations   von Willebrand Disease, GP1BA SEQ, VWD, bleeding
Warfarin GenotypingWarfarin Genotyping, warfarin, Coumadin, pharmacogenetics, PGX
3001541 Warfarin Sensitivity (CYP2C8, CYP2C9, CYP4F2, VKORC1) Genotyping Warfarin Genotyping, warfarin, Coumadin, pharmacogenetics, PGX
Wilson DiseaseWilson Disease, copper
2010716 Wilson Disease (ATP7B) Sequencing Wilson Disease, copper
X-Chromosome InactivationX-Chromosome Inactivation, XCI
2006352 X-Chromosome Inactivation Analysis Additional Technical Information X-Chromosome Inactivation, XCI
X-Linked AdrenoleukodystrophyX-Linked Adrenoleukodystrophy, ABCD1 FGA, XLALD,XL-ALD
2011906 Adrenoleukodystrophy, X-Linked (ABCD1) Sequencing and Deletion/Duplication X-Linked Adrenoleukodystrophy, ABCD1 FGA, XLALD,XL-ALD
Y Chromosome MicrodeletionY Chromosome Microdeletion, Y CHROM, Male Infertility, PCR
2001778 Y Chromosome Microdeletion Y Chromosome Microdeletion, Y CHROM, Male Infertility, PCR