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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 | |
0051495 | Alpha Thalassemia (HBA1 & HBA2) 7 Deletions | Alpha Thalassemia, ALPHA THAL, 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 | |||
3001585 | Early-Onset Alzheimer's Panel, Sequencing | Alzheimer's Disease, APOE AZ, e2, e3, e4 | |
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 | |
2002722 | PTEN-Related Disorders Sequencing | Breast Cancer, 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 | 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 | |
2009302 | Li-Fraumeni (TP53) Sequencing | Breast Cancer, TP53 FGS, 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 | |
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) | |
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 | |
CHARGE SyndromeCHARGE Syndrome, CHARGE Syndrome | |||
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 | |
2011144 | Arginine:Glycine Amidinotransferase (GATM) Deficiency Sequencing | Creatine, AGAT FGS, AGAT, l-arginine:glycine, creatine, creatine deficiency , AGAT 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 | |
2005559 | Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication | Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form), EDS-VI FGA, connective tissue, EDS | |
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 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: |
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 | |
2009302 | Li-Fraumeni (TP53) Sequencing | Gastrointestinal Cancer, TP53 FGS, 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 | |
Hemoglobin LeporeHemoglobin Lepore, LEPORE, Beta globin, delta globin, beta thalassemia, Hb Lepore-Washington-Boston, Hb Lepore-Baltimore, Hb Lepore-Hollandia, Hemoglobinopathy | |||
2004686 | Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations | Hemoglobin Lepore, LEPORE, Beta globin, delta globin, beta thalassemia, Hb Lepore-Washington-Boston, Hb Lepore-Baltimore, Hb Lepore-Hollandia, Hemoglobinopathy | |
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 | |
0051495 | Alpha Thalassemia (HBA1 & HBA2) 7 Deletions | Hemoglobinopathies, ALPHA THAL, Hemoglobinopathies, alpha thalassemia | |
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 | |
2004686 | Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations | Hemoglobinopathies, LEPORE, Beta globin, delta globin, beta thalassemia, Hb Lepore-Washington-Boston, Hb Lepore-Baltimore, Hb Lepore-Hollandia | |
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 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 |
HLA TestingHLA Testing, HLA I NGS, HLA II NGS, HLA A NGS, HLA B NGS, HLA C NGS, HLA DRB1, HLA DQB1, HLA DPB1 | |||
2012482 | HLA-A by Next Generation Sequencing | HLA Testing, HLA A NGS | |
2012486 | HLA-B by Next Generation Sequencing | HLA Testing, HLA B NGS | |
2012490 | HLA-C by Next Generation Sequencing | HLA Testing, HLA C NGS | |
2012494 | HLA-DRB1 by Next Generation Sequencing | HLA Testing, HLA DRB1 | |
2012498 | HLA-DQB1 by Next Generation Sequencing | HLA Testing, HLA DQB1 | |
2012502 | HLA-DPB1 by Next Generation Sequencing | HLA Testing, HLA DPB1 | |
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 |
Interleukin 28 B Associated SNP—GenotypingInterleukin 28 B Associated SNP—Genotyping, IL28B, Hepatitis C Virus (HCV), peginterferon, interferon, PEG-IFNα, pharmacogenetics, PGX | |||
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 | |
2009302 | Li-Fraumeni (TP53) Sequencing | Li-Fraumeni Syndrome, TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
LMNA–Related DisordersLMNA–Related Disorders, LMNA FGS, Muscular dystrophy-related laminopathy, laminopathies, Emery-Dreifuss muscular dystrophy type 2, EDMD2, Limb Girdle muscular dystrophy 1B, LGMD1B, Hutchinson-Gilford progeria, HGPS, Charcot-Marie-Tooth 2B1, CMT2B1, Familial partial lipodystrophy Dunnigan type, FLPD, dilated cardiomyopathy, DCM, mandibulo-acral dysplasia, MAD, atypical Werner,C236 WS, restrictive dermopathy, RD, LMNA DD, Muscular dystrophy-related laminopathy, laminopathies, Emery-Dreifuss muscular dystrophy type 2, EDMD2, Limb Girdle muscular dystrophy 1B, LGMD1B, dilated cardiomyopathy, DCM | |||
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 | |
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 | ||
Molar Pregnancy | |||
0051755 | Molar Pregnancy, 16 DNA Markers | Molar Pregnancy, MOL PREG, Gestational Trophoblastic Disease | |
Mucolipidosis IV | |||
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 | |
2007599 | Mucopolysaccharidosis Type 1, Total HS and NRE (Sensi-Pro) Quantitative, Serum or Plasma | Mucopolysaccharidoses (MPS), MPSI QNT S, Alpha-L-Iduronidase Deficiency, Mucopolysaccharidosis Type I, IDUA Deficiency, MPS I, Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome, IDUA, Alpha-L-iduronidase, MPSI | |
2007488 | Mucopolysaccharidosis Type 1, Total HS and NRE (Sensi-Pro) Quantitative, Urine | Mucopolysaccharidoses (MPS), MPSI QNT U, Alpha-L-Iduronidase Deficiency, Mucopolysaccharidosis Type I, IDUA Deficiency, MPS I, Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome, IDUA, Alpha-L-iduronidase, MPSI | |
2008775 | Mucopolysaccharidosis Type II, Total HS and NRE (Sensi-Pro) Quantitative, Serum or Plasma | Mucopolysaccharidoses (MPS), MPS2 QNT S, Hunter Syndrome, Mucopolysaccharidosis Type II, I2S Deficiency, Iduronate 2-Sulfatase Deficiency, MPS II, IDS, Iduronate 2-sulfatase, MPSII | |
2009282 | Mucopolysaccharidosis Type II, Total HS and NRE (Sensi-Pro) Quantitative, Urine | Mucopolysaccharidoses (MPS), MPS2 QNT U, Hunter Syndrome, Mucopolysaccharidosis Type II, I2S Deficiency, Iduronate 2-Sulfatase Deficiency, MPS II, IDS, Iduronate 2-sulfatase, MPSII | |
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 | |
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 | |
Neurodegenerative DisordersNeurodegenerative Disorders, Neurodegenerative Disorders | |||
3001585 | Early-Onset Alzheimer's Panel, Sequencing | Neurodegenerative Disorders, APP, PSEN1, PSEN2, dementia | |
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 | |
2004195 | Noonan Syndrome (SOS1) Sequencing | Noonan Syndrome, SOS1 FGS, Neurocognitive Impairments, NS, PTPN11, Leopard, Noonan-like/multiple giant-cell lesion | |
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 | |
0099289 | Organic Acids, Plasma | Organic Acids, ORG AC P | |
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 | |
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 | |||
2002722 | PTEN-Related Disorders Sequencing | PTEN-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 | |
RASA1-Related DisordersRASA1-Related Disorders, RASA1 FGA, RASA1, CM-AVM, Parkes Weber, Capillary-ateriovenous malformations, vascular malformations, CM, port-wine stain, arteriovenous malformations, AVM, CM-AVM, Parkes-Weber, PKWS | |||
3003634 | Capillary Malformation-Arteriovenous Malformation (CM-AVM) Panel, Sequencing and Deletion/Duplication | RASA1-Related Disorders, RASA1 FGA, RASA1, CM-AVM, Parkes Weber | |
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 | |
2009302 | Li-Fraumeni (TP53) Sequencing | Renal Cancer, TP53 FGS, p53, TP53, Li Fraumeni, adrenocortical, sarcoma, chompret | |
Rett SyndromeRett Syndrome, RETT FGS, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments | |||
0051378 | Rett Syndrome (MECP2), Full Gene Sequencing | Rett 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 | |
2011704 | Smith-Lemli-Opitz Syndrome (DHCR7) Sequencing, Fetal | Smith-Lemli-Opitz Syndrome, DHCR7 FGS FE, 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 | |
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 | |
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 | |
2002001 | Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing | Additional Technical Information | Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD), VLCAD FGS |
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 | |
2011902 | Adrenoleukodystrophy, X- Linked (ABCD1) Sequencing | X-Linked Adrenoleukodystrophy, ABCD1 FGS, 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 |