| 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 |
| 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 |
| 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 |
| 0081170 |
Acylglycine, Quantitative, Urine |
|
Acylglycine, ACYLGLY MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC2-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC1 MCCC2 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial 3 MCC 3MCC Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency 2-Methyl Butyryl CoA Dehydrogenase Deficiency Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial SCAD Ethylmalonic Encephalopathy Protein ETHE1, mitochondrial ETHE1 EMA Ethyl malonic acid Ethylmalonic acid Fatty Acid Oxidation Disorders FAOD Biotin Holocarboxylase Synthetase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Holocarboxylase Synthetase Deficiency Early-Onset Combined Carboxylase Deficiency Early-Onset Multiple Carboxylase Deficiency Infantile Multiple Carboxylase Deficiency Isobutyryl-CoA Dehydrogenase Deficiency ACAD8 Isobutyryl-CoA dehydrogenase, mitochondrial Ketothiolase Deficiency Beta-Ketothiolase Deficiency Alpha-Methylacetoaceticaciduria Methylacetoacetyl-CoA Thiolase Deficiency ACAT1 Acetyl-CoA acetyltransferase, mitochondrial Medium Chain 3-Ketothiolase Deficiency MCKAT Deficiency Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM MCAD Deficiency Medium-chain specific acyl-CoA dehydrogenase, mitochondrial Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS SCAD Deficiency ACADS |
| Alpha Fetoprotein, Aminotic FluidAlpha Fetoprotein, Amniotic Fluid, AF AFP, Prenatal Screening and Diagnosis, HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin,ALPHA THAL, AG FGA, Hemoglobinopathies, A1A GENO, AAT |
| 3000142 |
Alpha Fetoprotein (Amniotic Fluid) with Reflex to Acetylcholinesterase and Fetal Hemoglobin |
|
Alpha Fetoprotein, Amniotic Fluid, AF AFP, Prenatal Screening and Diagnosis ACHE |
| Alpha ThalassemiaAlpha Thalassemia, HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin, ALPHA THAL, AG FGA, Hemoglobinopathies |
| 3003651 |
Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring |
|
HBA DDCS, A globin, Alpha globin gene analysis, Alpha globin mutations |
| 2011622 |
Alpha Globin (HBA1 and HBA2) Deletion/Duplication |
|
Alpha Thalassemia, HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin, Hemoglobinopathies |
| 2011708 |
Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication |
|
Alpha Thalassemia, AG FGA, Hemoglobinopathies |
| 3003656 |
Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring, Fetal |
|
HBA DDCSFE, A globin, Alpha globin gene analysis, Alpha globin mutations |
| Alpha-1-AntitrypsinAlpha-1-Antitrypsin, A1A GENO, AAT |
| 0051256 |
Alpha-1-Antitrypsin & A1A Genotype with Reflex to Phenotype |
|
Alpha-1-Antitrypsin, A1A GENO, AAT, SERPINA1, S allele, Z allele, Pi typing |
| Alport SyndromeAlport Syndrome, ALPORT FGA Renal disease, chronic kidney disease, hematuria, APOE AZ |
| 3002685 |
Alport Syndrome Panel, Sequencing and Deletion/Duplication |
|
COL4A3, COL4A4, COL4A5, MYH9, Familial nephritis, hereditary nephritis, MYH9-associated disorder, MYH9-related disease, thin basement membrane disease, thin basement membrane nephropathy |
| Alzheimer's DiseaseAlzheimer's Disease, APOE AZ, e2, e3, e4, APP, PSEN1, PSEN2 |
| 3001585 |
Early-Onset Alzheimer's Panel, Sequencing |
|
Alzheimer's Disease, APOE AZ, e2, e3, e4, APP, PSEN1, PSEN2 |
| 2013341 |
Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk |
|
Alzheimer's Disease, APOE AZ |
| Amino AcidsAmino Acids, AA QNT Amino Adipic Aciduria Aminoadipicaciduria Arginase Deficiency Hyperargininemia ARG1 Arginase-1 ARG 1 Arginemia Argininosuccinate Lyase Deficiency Argininosuccinic Acid Lyase Deficiency ASL Deficiency ASL Argininosuccinate lyase ASA lyase deficiency Carbamoylphosphate Synthetase I Deficiency Carbamyl Phosphate Synthetase Deficiency CPS1 Deficiency CPS1 Carbamoyl-phosphate synthase [ammonia], mitochondrial CPS 1 CPS I Citrullinemia Type I Argininosuccinate Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency ASS Deficiency Citrullinemia, Classic CTLN1 ASS1 ASS1 Citrullinemia Type II Adult-Onset Type II Citrullinemia CTLN2 SLC25A13 Calcium-binding mitochondrial carrier protein Aralar2 Citrin Deficiency Glycine Encephalopathy NKH Non-Ketotic Hyperglycinemia AMT-Related Glycine Encephalopathy GCSH-Related Glycine Encephalopathy GLDC-Related Glycine Encephalopathy AMT GCSH GLDC Aminomethyltransferase, mitochondrial Glycine cleavage system H protein, mitochondrial Glycine dehydrogenase [decarboxylating], mitochondrial SLC6A19 Hartnup Disease Sodium-dependent neutral amino acid transporter B(0) Histidinemia HAL Deficiency Histidase Deficiency HAL Histidine ammonia-lyase Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency Homocystinuria, Cystathionine Beta-Synthase Deficiency CBS Cystathionine beta-synthase Hydroxyprolinemia hydroxyproline Hyper-Beta-Alaninemia Hyperalaninemia alanine Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Isolated Persistent Hypermethioninemia Methionine Adenosyltransferase Deficiency MAT1A S-adenosylmethionine synthetase isoform type-1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Maple Syrup Urine Disease BCKD Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Branched-Chain Ketoaciduria Maple Syrup Disease MSUD Maple Syrup Urine Disease Type 1A Maple Syrup Urine Disease Type 1B Maple Syrup Urine Disease Type 2 BCKDHA 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial BCKDHB 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial DBT Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial Methylmalonic Acidemia Methylmalonicaciduria Methylmalonic Aciduria MCEE-Related Methylmalonic Acidemia MMAA-Related Methylmalonic Acidemia MMAB-Related Methylmalonic Acidemia MMADHC-Related Methylmalonic Acidemia MUT-Related Methylmalonic Acidemia MCEE Methylmalonyl-CoA epimerase, mitochondrial MMAA Methylmalonic aciduria type A protein, mitochondrial MMAB Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial MMADHC Methylmalonic aciduria and homocystinuria type D protein, mitochondrial MUT Methylmalonyl-CoA mutase, mitochondrial MMA Ornithine Aminotransferase Deficiency Hyperornithinemia with Gyrate Atrophy of Choroid and Retina OAT Ornithine aminotransferase, mitochondrial Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Phenylalanine Hydroxylase Deficiency PAH Deficiency Hyperphenylalaninemia Phenylketonuria Variant PKU PAH Phenylalanine-4-hydroxylase PKU Tyrosinemia Type I FAH Deficiency Fumarylacetoacetase Deficiency Fumarylacetoacetate Hydrolase Deficiency Hepatorenal Tyrosinemia Hereditary Tyrosinemia Type I FAH Fumarylacetoacetase Tyrosinemia Type II Keratosis Palmoplantaris with Corneal Dystrophy Oculocutaneous Tyrosinemia Oregon Type Tyrosinemia Richner-Hanhart Syndrome TAT Deficiency Tyrosine Aminotransferase Deficiency Tyrosine Transaminase Deficiency TAT Tyrosine aminotransferase Tyrosinemia Type III 4-Hydroxyphenylpyruvate Dioxygenase Deficiency HPD 4-hydroxyphenylpyruvate dioxygenase, UAA QNT Amino Adipic Aciduria Aminoadipicaciduria CSNU1 CSNU3 Cystinuria Cystinuria, Type I Cystinuria, Type II Cystinuria, Type III SLC3A1 Neutral and basic amino acid transport protein rBAT SLC7A9 B(0,+)-type amino acid transporter 1 SLC6A19 Hartnup Disease Sodium-dependent neutral amino acid transporter B(0) Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Hydroxyprolinemia, CSF AA QNT Glycine Encephalopathy NKH Non-Ketotic Hyperglycinemia AMT-Related Glycine Encephalopathy GCSH-Related Glycine Encephalopathy GLDC-Related Glycine Encephalopathy AMT GCSH GLDC Aminomethyltransferase, mitochondrial Glycine cleavage system H protein, mitochondrial Glycine dehydrogenase [decarboxylating], mitochondrial |
| 2009389 |
Amino Acids Quantitative by LC-MS/MS, Plasma |
|
Amino Acids, AA QNT Amino Adipic Aciduria Aminoadipicaciduria Arginase Deficiency Hyperargininemia ARG1 Arginase-1 ARG 1 Arginemia Argininosuccinate Lyase Deficiency Argininosuccinic Acid Lyase Deficiency ASL Deficiency ASL Argininosuccinate lyase ASA lyase deficiency Carbamoylphosphate Synthetase I Deficiency Carbamyl Phosphate Synthetase Deficiency CPS1 Deficiency CPS1 Carbamoyl-phosphate synthase [ammonia], mitochondrial CPS 1 CPS I Citrullinemia Type I Argininosuccinate Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency ASS Deficiency Citrullinemia, Classic CTLN1 ASS1 ASS1 Citrullinemia Type II Adult-Onset Type II Citrullinemia CTLN2 SLC25A13 Calcium-binding mitochondrial carrier protein Aralar2 Citrin Deficiency Glycine Encephalopathy NKH Non-Ketotic Hyperglycinemia AMT-Related Glycine Encephalopathy GCSH-Related Glycine Encephalopathy GLDC-Related Glycine Encephalopathy AMT GCSH GLDC Aminomethyltransferase, mitochondrial Glycine cleavage system H protein, mitochondrial Glycine dehydrogenase [decarboxylating], mitochondrial SLC6A19 Hartnup Disease Sodium-dependent neutral amino acid transporter B(0) Histidinemia HAL Deficiency Histidase Deficiency HAL Histidine ammonia-lyase Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency Homocystinuria, Cystathionine Beta-Synthase Deficiency CBS Cystathionine beta-synthase Hydroxyprolinemia hydroxyproline Hyper-Beta-Alaninemia Hyperalaninemia alanine Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Isolated Persistent Hypermethioninemia Methionine Adenosyltransferase Deficiency MAT1A S-adenosylmethionine synthetase isoform type-1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Maple Syrup Urine Disease BCKD Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Branched-Chain Ketoaciduria Maple Syrup Disease MSUD Maple Syrup Urine Disease Type 1A Maple Syrup Urine Disease Type 1B Maple Syrup Urine Disease Type 2 BCKDHA 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial BCKDHB 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial DBT Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial Methylmalonic Acidemia Methylmalonicaciduria Methylmalonic Aciduria MCEE-Related Methylmalonic Acidemia MMAA-Related Methylmalonic Acidemia MMAB-Related Methylmalonic Acidemia MMADHC-Related Methylmalonic Acidemia MUT-Related Methylmalonic Acidemia MCEE Methylmalonyl-CoA epimerase, mitochondrial MMAA Methylmalonic aciduria type A protein, mitochondrial MMAB Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial MMADHC Methylmalonic aciduria and homocystinuria type D protein, mitochondrial MUT Methylmalonyl-CoA mutase, mitochondrial MMA Ornithine Aminotransferase Deficiency Hyperornithinemia with Gyrate Atrophy of Choroid and Retina OAT Ornithine aminotransferase, mitochondrial Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Phenylalanine Hydroxylase Deficiency PAH Deficiency Hyperphenylalaninemia Phenylketonuria Variant PKU PAH Phenylalanine-4-hydroxylase PKU Tyrosinemia Type I FAH Deficiency Fumarylacetoacetase Deficiency Fumarylacetoacetate Hydrolase Deficiency Hepatorenal Tyrosinemia Hereditary Tyrosinemia Type I FAH Fumarylacetoacetase Tyrosinemia Type II Keratosis Palmoplantaris with Corneal Dystrophy Oculocutaneous Tyrosinemia Oregon Type Tyrosinemia Richner-Hanhart Syndrome TAT Deficiency Tyrosine Aminotransferase Deficiency Tyrosine Transaminase Deficiency TAT Tyrosine aminotransferase Tyrosinemia Type III 4-Hydroxyphenylpyruvate Dioxygenase Deficiency HPD 4-hydroxyphenylpyruvate dioxygenase,CSF AA QNT Glycine Encephalopathy NKH Non-Ketotic Hyperglycinemia AMT-Related Glycine Encephalopathy GCSH-Related Glycine Encephalopathy GLDC-Related Glycine Encephalopathy AMT GCSH GLDC Aminomethyltransferase, mitochondrial Glycine cleavage system H protein, mitochondrial Glycine dehydrogenase [decarboxylating], mitochondria |
| 2009419 |
Amino Acids Quantitative by LC-MS/MS, Urine |
|
Amino Acids, UAA QNT Amino Adipic Aciduria Aminoadipicaciduria CSNU1 CSNU3 Cystinuria Cystinuria, Type I Cystinuria, Type II Cystinuria, Type III SLC3A1 Neutral and basic amino acid transport protein rBAT SLC7A9 B(0,+)-type amino acid transporter 1 SLC6A19 Hartnup Disease Sodium-dependent neutral amino acid transporter B(0) Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Hydroxyprolinemia |
| 0080137 |
Amino Acids Quantitative, CSF |
|
Amino Acids, CSF AA QNT Glycine Encephalopathy NKH Non-Ketotic Hyperglycinemia AMT-Related Glycine Encephalopathy GCSH-Related Glycine Encephalopathy GLDC-Related Glycine Encephalopathy AMT GCSH GLDC Aminomethyltransferase, mitochondrial Glycine cleavage system H protein, mitochondrial Glycine dehydrogenase [decarboxylating], mitochondrial |
| Angelman SyndromeAngelman Syndrome, AS PWS, Angelman, Prader-Willi Syndrome, Neurocognitive Impairments,UBE3A FGS, D15S10 |
| 3006247 |
Angelman Syndrome and Prader-Willi Syndrome by Methylation-Specific MLPA |
|
Angelman Syndrome, AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments, 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 |
| 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 |
| 3003947 |
Loeys-Dietz Syndrome Core Panel, Sequencing |
|
TGFBR1, TGFBR2, LDS NGS |
| 3004102 |
Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication |
|
FBN1, FBN1 NGS |
| 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 |
| ArthrogryposisECEL1, FBN2, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2, DARTHR NGS,Distal contractures, ,Freeman-Sheldon syndrome, Congenital contractures |
| 3003917 |
Distal Arthrogryposis Panel, Sequencing |
|
ECEL1, FBN2, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2, DARTHR NGS,Distal contractures, ,Freeman-Sheldon syndrome, Congenital contractures |
| 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 |
| 3005882 |
Dysautonomia, Familial (ELP1), 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 |
| 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 |
| 3004547 |
Beta Globin (HBB) Gene Sequencing |
|
Hemoglobinopathies, β thalassemia, hemoglobinopathy, beta thalassemia |
| 3004550 |
Beta Globin (HBB) Sequencing, Fetal |
|
Beta Globin, BG SEQ FE, 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 |
| 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 |
| 3004424 |
Biotinidase Deficiency (BTD) Sequencing |
|
Biotinidase Deficiency, BTD FGS, Multiple carboxylase |
| Birt-Hogg-Dubé SyndromeBirt-Hogg-Dubé Syndrome |
| 3005703 |
Birt-Hogg-Dubé Syndrome (FLCN) Sequencing and Deletion/Duplication |
- Addition Test Information
|
Birt-Hogg-Dubé Syndrome |
| 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 |
| 3016640 |
RhD Gene (RHD) Copy Number, Fetal |
|
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 |
| 3016679 |
RhC/c (RHCE) Antigen Genotyping, Fetal |
|
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 |
| 3016682 |
RhE/e (RHCE) Antigen Genotyping, Fetal |
|
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 |
| 3016676 |
Kell K/k (KEL) Antigen Genotyping, Fetal |
|
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 |
| 3016639 |
Red Blood Cell Antigen Genotyping, Fetal |
|
Blood Genotyping, colton,diego,dombrock,duffy,kell,kidd,landsteiner-wiener,lutheran,mns,rh,scianna |
| Bone Marrow FailureBone Marrow Failure |
| 3001615 |
Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication |
- Additional Technical Information
|
Bone Marrow Failure |
| 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 |
| 3005654 |
Hereditary Breast Cancer High-Risk Panel, Sequencing and Deletion/Duplication |
- Additional Technical Information
|
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 |
| 3005632 |
Hereditary Breast Cancer Guidelines-Based Panel, Sequencing and Deletion/Duplication |
- Additional Technical Information
|
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 |
| 2012026 |
Hereditary Breast and Gynecological Cancers 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 |
| CADASILCADASIL, opathy, NOTCH3, notch3 |
| 3004383 |
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL |
|
CADASIL, opathy, NOTCH3, notch3 |
| Capillary Malformation-Arteriovenous Malformation (CM-AVM)CMAVM, CMAVM NGS, RASA1, EPHB4,ABCD1, ACADVL, ACVRL1, APC, ATP7A, BMPR1A, BRCA1, BRCA2, CFTR, COL4A5, ENG, F8, F9, FBN1, HBB, MECP2, MEN1, MLH1, MSH2, MSH6, NF1, OTC, PKD1, PKD2, PLOD1, PMS2, PRSS1, PTEN, RASA1, SDHB, SDHC, SDHD, SLC22A5, SHOX, SMAD4, SPINK1, SPRED1, STK11, TP53, VHL |
| 3003634 |
Capillary Malformation-Arteriovenous Malformation (CM-AVM) Panel, Sequencing and Deletion/Duplication |
|
CMAVM, CMAVM NGS, RASA1, EPHB4 |
| 3003144 |
Deletion/Duplication Analysis by MLPA |
|
ABCD1, ACADVL, ACVRL1, APC, ATP7A, BMPR1A, BRCA1, BRCA2, CFTR, COL4A5, ENG, F8, F9, FBN1, HBB, MECP2, MEN1, MLH1, MSH2, MSH6, NF1, OTC, PKD1, PKD2, PLOD1, PMS2, PRSS1, PTEN, RASA1, SDHB, SDHC, SDHD, SLC22A5, SHOX, SMAD4, SPINK1, SPRED1, STK11, TP53, VHL |
| CardiomyopathyABCC9, ACTC1, ACTN2, ANK2, ANKRD1, BAG3, CACNA1C, CACNB2, CASQ2, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FKRP, FKTN, GAA, GATAD1, GLA, GPD1L, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, TAZ, TCAP, TGFB3, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, VCL, CARDIACPAN, Arrhythmogenic right ventricular cardiomyopathy (ARVC), Arrhythmogenic right ventricular dysplasia (ARVD), Brugada syndrome (BrS), Catecholaminergic polymorphic ventricular tachycardia (CPVT), Dilated cardiomyopathy (DCM), Familial dilated cardiomyopathy (FDC), Familial polymorphic cardiomyopathy (FPVT), Hypertrophic cardiomyopathy (HCM), Jervell and Lange-Nielsen syndrome, Left ventricular noncompaction (LVNC), Long QT syndrome (LQTS), Romano-Ward, Short QT syndrome (SQTS), Uhl anomaly |
| 2010183 |
Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication |
|
Cardiomyopathy, CARDIACPAN, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM), Arrhythmogenic right vernticular cardiomyopathy (ARVC), Left ventricular noncompaction (LVNC), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada syndrome (BrS), Long QT syndrome (LQTS), Romano-Ward, Short QT syndrome (SQTS), ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FXN, GAA, GLA, GPD1L, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH10, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, OBSCN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, SYNE1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCL ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNB2, CASQ2, CAV3, CORIN, COX15, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FXN, GAA, GLA, GPD1L, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH10, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEXN, OBSCN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, SYNE1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, VCL, arrhythmogenic right ventricular cardiomyopathy (ARVC), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular noncompaction (LVNC), long QT syndrome (LQTS), Romano-Ward, short QT syndrome (SQTS) |
| 3001579 |
Hypertrophic Cardiomyopathy Panel, Sequencing |
|
HCM, familial hypertrophic cardiomyopathy (FHCM), Danon disease, Fabry disease, glycogen storage disease II (Pompe), Noonan syndrome, RASopathies, transthyretin amyloidosis, ACTC1, ACTN2, AGL, ALPK3, BRAF, CACNA1C, CSRP3, DES, FHL1, FLNC, GAA, GLA, HRAS, JPH2, KRAS, LAMP2, MAP2K1, MAP2K2, MYBPC3, MYH7, MYL2, MYL3, NRAS, PLN, PRKAG2, PTPN11, RAF1, RIT1, SOS1, TNNC1, TNNI3, TNNT2, TPM1, TTR |
| 3001581 |
Dilated Cardiomyopathy Panel, Sequencing |
|
DCM, familial dilated cardiomyopathy (FDCM), Alstrom syndrome, Barth syndrome, Carvajal syndrome, congenital disorder of glycosylation 1M, Duchenne/Becker muscular dystrophy, Emery-Dreifuss muscular dystrophy (EDMD), ABCC9, ACTC1, ACTN2, ALMS1, BAG3, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, EMD, FKTN, FLNC, GLA, JUP, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, PKP2, PLN, PRDM16, PRKAG2, RAF1, RBM20, RYR2, SCN5A, SGCD, TAZ, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL |
| 3001603 |
Long QT Panel, Sequencing and Deletion/Duplication |
|
Long QT syndrome (LQTS), Andersen-Tawil syndrome, Timothy syndrome, Jervell and Lange-Nielson syndrome, short QT syndrome (SQTS), CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A |
| CarnitineCarnitine, CARNPAN Fatty Acid Oxidation Disorders FAOD Mitochondrial, acylcarnitine, free and total carnitine, OCTN2 CARN F&T Carnitine Palmitoyltransferase IA Deficiency CPT1A Deficiency Hepatic Carnitine Palmitoyltransferase 1 Deficiency Hepatic CPT1 L-CPT 1 Deficiency CPT1A Carnitine O-palmitoyltransferase 1, liver isoform CPT 1 CPT 1A CPTI CPT I Carnitine Palmitoyltransferase II Deficiency CPT II Deficiency CPT2 Carnitine O-palmitoyltransferase 2, mitochondrial CPTII CPT 2 Carnitine-Acylcarnitine Translocase Deficiency CACT Deficiency SLC25A20 Mitochondrial carnitine/acylcarnitine carrier protein Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5, OCTN2 CARN URINE Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect, CARN, CARN TOTAL |
| 0081110 |
Carnitine Panel |
|
Carnitine, CARNPAN Fatty Acid Oxidation Disorders FAOD Mitochondrial, acylcarnitine, free and total carnitine |
| 0080068 |
Carnitine, Free and Total, Plasma |
|
Carnitine, OCTN2 CARN F&T Carnitine Palmitoyltransferase IA Deficiency CPT1A Deficiency Hepatic Carnitine Palmitoyltransferase 1 Deficiency Hepatic CPT1 L-CPT 1 Deficiency CPT1A Carnitine O-palmitoyltransferase 1, liver isoform CPT 1 CPT 1A CPTI CPT I Carnitine Palmitoyltransferase II Deficiency CPT II Deficiency CPT2 Carnitine O-palmitoyltransferase 2, mitochondrial CPTII CPT 2 Carnitine-Acylcarnitine Translocase Deficiency CACT Deficiency SLC25A20 Mitochondrial carnitine/acylcarnitine carrier protein Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5 |
| 0081308 |
Carnitine, Free and Total, Urine |
|
Carnitine, OCTN2 CARN URINE Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5 |
| 3006178 |
Isobutyryl/butyryl-carnitine (C4) Quantitative, Urine |
|
Carnitine, OCTN2 CARN URINE Solute carrier family 22 member 5 Systemic Primary Carnitine Deficiency Carnitine Uptake Defect SLC22A5 |
| 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 |
| 3004445 |
Celiac Disease HLA-DQ Genotyping |
|
| Central Nervous System CancerCentral Nervous System Cancer |
| 3001633 |
Hereditary Central Nervous System Cancer Panel, Sequencing and Deletion/Duplication |
|
| 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 |
| ChimerismChimerism, STR-PRE, STR-DONOR, STR-POSTSC |
| 3005449 |
Chimerism, Pretransplant |
|
Chimerism, STR-PRE |
| 3005462 |
Chimerism, Donor |
|
Chimerism, STR-DONOR |
| 3005468 |
Chimerism, Additional Donor |
|
Chimerism, STR-DONOR |
| 3005454 |
Chimerism, Posttransplant |
|
Chimerism, STR-POSTSC |
| 3005401 |
Chimerism, Posttransplant, Sorted Cells (B Cells) |
|
Chimerism, STR-POST |
| 3005441 |
Chimerism, Posttransplant, Sorted Cells (CD 56+ Cells) |
|
Chimerism, STR-POST |
| 3005409 |
Chimerism, Posttransplant, Sorted Cells (CD33+ Cells) |
|
Chimerism, STR-POST |
| 3005433 |
Chimerism, Posttransplant, Sorted Cells (CD34+ Cells) |
|
Chimerism, STR-POST |
| 3005417 |
Chimerism, Posttransplant, Sorted Cells (Granulocytes) |
|
Chimerism, STR-POST |
| 3005425 |
Chimerism, Posttransplant, Sorted Cells (Monocytes) |
|
Chimerism, STR-POST |
| 3005393 |
Chimerism, Posttransplant, Sorted Cells (T Cells) |
|
Chimerism, STR-POST |
| 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 |
| 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 |
| 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 |
| 3004745 |
Cystic Fibrosis (CFTR) Sequencing and Deletion/Duplication |
|
Cystic Fibrosis, CFTR FGA, Diagnostic, CF |
| 2013661 |
Cystic Fibrosis (CFTR) Expanded Variant Panel |
|
Cystic Fibrosis, CF VAR, CF, carrier screening |
| 2013662 |
Cystic Fibrosis (CFTR) Expanded Variant Panel, Fetal |
|
Cystic Fibrosis, CF VAR FE, 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 |
|
Cytochrome P450, CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP3A4, CYP3A5, pharmacogenetics, PGX |
| 3004255 |
Cytochrome P450 Genotyping Panel, with GeneDose Access |
|
CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP GD |
| 3004310 |
CYP2B6 |
|
2B6, cytochrome p450, bupropion, efavirenz, methadone, nevirapine |
| 3001508 |
CYP2C19 |
|
Cytochrome P450, clopidogrel (Plavix), antidepressants, voriconazole, protein pump inhibitors (PPIs), omeprazole, pharmacogenetics, PGX |
| 3001501 |
CYP2C8, CYP2C9, and CYP2C cluster |
|
Cytochrome P450, warfarin, Coumadin, phenytoin, sulfonylureas, glimepiride, gliclazide, glibenclamide, tolbutamide, pharmacogenetics, PGX |
| 3001513 |
CYP2D6 |
|
Cytochrome P450, antidepressants, antipscyhotics, atomoxetine, tramadol, codeine, oxycodone, tamoxifen, zuclopenthixol, tropisetron, felcainide, metoprolol, propafenone, pharmacogenetics, PGX |
| 3001518 |
CYP3A4 and CYP3A5 |
|
Cytochrome P450, tacrolimus, pharmacogenetics, PGX |
| Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form)Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form), EDS6 Ehlers-Danlos Syndrome, Kyphoscoliotic Form EDS Kyphoscoliotic Form EDS Type VI EDS VI Ehlers-Danlos Syndrome Type VI Lysyl-Hydroxylase Deficiency Ehlers-Danlos Syndrome Type VIA Nevo Syndrome PLOD1 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 EDSVI EDS6 EDS 6, connective tissue, EDS, EDS-VI FGA |
| 0080351 |
Ehlers-Danlos Syndrome Type VI Screen, Urine |
|
Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form), EDS6 Ehlers-Danlos Syndrome, Kyphoscoliotic Form EDS Kyphoscoliotic Form EDS Type VI EDS VI Ehlers-Danlos Syndrome Type VI Lysyl-Hydroxylase Deficiency Ehlers-Danlos Syndrome Type VIA Nevo Syndrome PLOD1 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 EDSVI EDS6 EDS 6, connective tissue |
| 0080342 |
Pyridinoline and Deoxypyridinoline by HPLC |
|
Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form), PYD & DPD |
| EpilepsyEpilepsy, CHILD EPIL, ADSL, CACNA1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DYRK1A, EEF1A2, EPM2A, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, IQSEC2, KANSL1, KCNT1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PNKP, POLG, PPT1, PRICKLE1, SCN1A, SCN1B, SCN2A, SLC2A1, SLC6A8, SLC9A6, TBC1D24, TCF4, TPP1, UBE3A, WDR45, ZEB2, INFANT EPIL, ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP6AP2, CACNA1A, CDKL5, CHD2, CHRNA7, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, DNM1, DYRK1A, EEF1A2, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GRIN1, GRIN2A, GRIN2B, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NR2F1, NRXN1, PCDH19, PIGA, PIGO, PIGV, PNKP, PNPO, POLG, PPT1, PRRT2, QARS, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2 |
| 3001591 |
Comprehensive 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 |
| 2013352 |
Pyridoxine-Dependent Epilepsy Panel, Serum or Plasma |
|
Epilepsy, |
| 2013355 |
Pyridoxine-Dependent Epilepsy Panel, Urine |
|
Epilepsy, |
| ErythrocytosisErythrocytosis |
| 3005721 |
Hereditary Erythrocytosis Panel, Sequencing |
- Additional Technical Information
|
Erythrocytosis |
| ExomeExome, EXOSEQ PRO, EXOME SEQ |
| 3016583 |
Exome Sequencing |
|
Exome, EXOSEQ PRO |
| 3016589 |
Exome Sequencing, Familial Control |
|
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 |
| 3004407 |
APC- and MUTYH-Associated Polyposis Panel, Sequencing and Deletion/Duplication |
|
APC-Associated Polyposis, Attenuated FAP, Gardner Syndrome, Turcot Syndrome, MAP Sequencing, MYH-Associated Polyposis Sequencing, APCMYH NGS |
| Familial HypercholesterolemiaAPOB, LDLR, LDLRAP1, PCSK9, FH, familial defective apoB, heterozygous familial hypercholesterolemia (HeFH), homozygous familial hypercholesterolemia (HoFH)/span> |
| 3002110 |
Familial Hypercholesterolemia Panel, Sequencing |
|
APOB, LDLR, LDLRAP1, PCSK9, FH, familial defective apoB, heterozygous familial hypercholesterolemia (HeFH), homozygous familial hypercholesterolemia (HoFH) |
| Familial 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 |
| 3005867 |
Familial Targeted Sequencing |
|
Familial Mutation Testing, SEQ FSM |
| 3005869 |
Familial 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), |
| 3004531 |
Familial Transthyretin Amyloidosis (TTR) |
|
Familial Transthyretin Amyloidosis (TTR), |
| 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 |
| Fatty Acid Oxidation Disorders |
| 3001851 |
Fatty Acid Oxidation Disorders Panel, Sequencing |
|
List all applicable keywords below (include genes and associated diseases, if word is part of the test name, do not include): ACAD9, ACADM, ACADS, ACADVL, ACAT1, CPT1A, CPT2, ECHS1, ETFA, ETFB, ETFDH, FLAD1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, MLYCD, SLC22A5, SLC25A20, SLC52A1, SLC52A2, SLC52A3, ACAD9 deficiency, ACADM deficiency, ACADS deficiency, Acute Fatty Liver Pregnancy (AFLP), acute recurrent myoglobinuria, beta-ketothiolase deficiency, Brown-Vialetto-Van-Laere syndrome 1, Brown-Vialetto-Van-Laere syndrome 2, CACT deficiency, carnitine-acylcarnitine translocase deficiency, carnitine transport defect, carnitine uptake defect, congenital hyperinsulinism, CPT1A deficiency, CPT II deficiency, ECHS1 deficiency, familial hyperinsulinemic hypoglycemia, Fazio-Londe syndrome, flavin adenine dinucleotide synthetase deficiency, glutaric acidemia II, glutaric aciduria II, GAII, GA2, HADH deficiency, HMG-CoA lyase deficiency, HMG-CoA synthase-2 deficiency, HSD10 mitochondrial disease, HSD17B10 deficiency, Hypertension, Elevated Liver Enzymes, and Low Platelet (HELLP) syndromes, LCHAD deficiency, lipid storage myopathy, LPIN1 deficiency, MADD type I, MADD type II, MADD type III, MADD-like illness, malonyl-CoA decarboxylase deficiency, MAT deficiency, MCAD deficiency, mitochondrial complex I deficiency, mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, trifunctional protein deficiency, multiple acyl-CoA dehydrogenase deficiency, Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI), MLYCD deficiency, primary carnitine deficiency, riboflavin deficiency, riboflavin transporter deficiency 1, riboflavin transporter deficiency 2, riboflavin transporter deficiency 3, SCAD deficiency, systemic primary carnitine deficiency, T2 deficiency, VLCAD deficiency |
| 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 |
| 3004419 |
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication |
|
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD), VLCAD FGA |
| 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 |
| 3004457 |
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 Uridyltransferase (GALT Enzyme), RBC |
|
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 |
| 3004716 |
Galactosemia (GALT) Sequencing and Deletion/Duplication |
Additional Technical Information |
Galactosemia, GALT FGA, 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 |
| 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, |
| 3005963 |
Hereditary Gastric Cancer Panel, Sequencing and Deletion/Duplication |
- Additional Technical Information
|
Hereditary Gastric Cancer Panel, Sequencing and Deletion/Duplication |
| 3005697 |
Hereditary Gastrointestinal Cancer High-Risk Panel, Sequencing and Deletion/Duplication |
- Additional Technical Information
|
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 |
| 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 |
| 3001605 |
Lynch Syndrome Panel, Sequencing and Deletion/Duplication |
|
MLH1, MSH2, MSH6, PMS2, EPCAM, Hereditary nonpolyposis colorectal cancer (HNPCC), Muir-Torre syndrome, Turcot syndrome, Constitutional Mismatch Repair Deficiency (CMMRD) |
| 3004407 |
APC- and MUTYH-Associated Polyposis Panel, Sequencing and Deletion/Duplication |
|
APC-Associated Polyposis, Attenuated FAP, Gardner Syndrome, Turcot Syndrome, MAP Sequencing, MYH-Associated Polyposis Sequencing, APCMYH NGS |
| 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 |
| 3004308 |
MLH1 Promoter Methylation |
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 |
| 3004277 |
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 |
| 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 |
| GenomeGenome |
| 3005928 |
Rapid Whole Genome Sequencing, Familial Control |
|
Genome |
| 3005933 |
Rapid Whole Genome Sequencing, Familial Control with Report |
|
Genome |
| 3005935 |
Rapid Whole Genome Sequencing |
|
Genome |
| 3016493 |
Whole Genome Sequencing |
|
Genome |
| 3016497 |
Whole Genome Sequencing, Familial Control |
|
Genome |
| 3005939 |
Whole Genome Reanalysis |
|
Genome |
| 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 |
| 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 |
| 3004273 |
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, |
| 3004720 |
Connexin 26 (GJB2) Sequencing and Deletion/Duplication |
|
Hearing Loss |
CX26SEQ, Hearing Loss |
| 2001956 |
Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions |
Additional Technical Information |
Hearing Loss |
GJB6 DEL, Hearing Loss |
| 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 |
| 3004547 |
Beta Globin (HBB) Gene Sequencing |
|
Hemoglobinopathies, β thalassemia, hemoglobinopathy, beta thalassemia |
| 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 |
| 3004550 |
Beta Globin (HBB) Sequencing, Fetal |
|
Hemoglobinopathies, β thalassemia, hemoglobinopathy, beta thalassemia |
| 2011708 |
Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication |
|
Hemoglobinopathies, AG FGA, alpha thalassemia |
| 3003651 |
Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring |
|
HBA DDCS, A globin, Alpha globin gene analysis, Alpha globin mutations |
| 2011622 |
Alpha Globin (HBA1 and HBA2) Deletion/Duplication |
|
Hemoglobinopathies, HBA DD, Alpha thalassemia, alpha globin mutations, alpha globin gene analysis, A globin |
| 3003656 |
Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with Reflex to Hb Constant Spring, Fetal |
|
HBA DDCSFE, A globin, Alpha globin gene analysis, Alpha globin mutations |
| 3001957 |
Gamma Globin (HBG1 and HBG2) Sequencing |
|
Hemoglobinopathies, A-gamma, G-gamma |
| 0050610 |
Hemoglobin Evaluation with Reflex to Electrophoresis and/or RBC Solubility |
|
Hemoglobinopathies, |
| 0050520 |
Hemoglobin S, Evaluation with Reflex to RBC Solubility |
|
Hemoglobinopathies, SCKL, hemoglobin S, sickle cell, HB S, Hgb S |
| 2013399 |
Hemoglobin S, Sickle Solubility |
|
Hemoglobinopathies, SICKLE, hemoglobin S, sickle cell, HB S, Hgb S |
| 0049090 |
Heinz Body Stain |
|
Hemoglobinopathies, Unstable Hemoglobinopathies, Hemolytic Anemias |
| 0049020 |
Hemoglobin, Unstable |
|
Hemoglobinopathies, HGB UNSTAB |
| HemophiliaHemophilias, F8 COMP, Factor VIII, Factor 8, bleeding, classic hemophilia, F8 INV, VWF2A SEQ, Christmas disease, |
| 3004232 |
Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication |
|
F8-COMP, hemophilia A molecular cascade; severe hemophilia A comprehensive reflex panel; hemophilia A reflex panel; hemophilia A mutation evaluation; hemophilia A carrier screening; hemophilia A carrier status, DNA analysis for hemophilia A; DNA analysis for F8 deficiency, factor VIII genetic analysis |
| 2001759 |
Hemophilia A (F8) 2 Inversions |
|
Hemophilias, F8 INV, Factor VIII, Factor 8, bleeding, classic hemophilia |
| 3004241 |
Hemophilia A (F8) Sequencing |
|
F8 NGS, F8 deficiency sequencing, factor VIII deficiency sequencing |
| 2001755 |
Hemophilia A (F8) 2 Inversions, Fetal |
|
Hemophilias, F8 INV FE, Factor VIII, Factor 8, bleeding, classic hemophilia |
| 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 |
| 2007384 |
Vascular Malformations Panel, Sequencing and Deletion/Duplication, 10 Genes |
|
Hereditary Hemorrhagic Telangiectasia (HHT), VACS PANEL, RASA1, ENG, ACVRL1/ALK1, SMAD4, PTEN, TIE2/TEK, GLMN, KRIT1/CCM1, CCM2, CCM3, capillary malformation, telangiectasia, arteriovenous malformation, AVM, HHT, hereditary hemorrhagic telangiectasia, Parkes Weber, CM-AVM, Multiple cutaneous and mucosal, VMCM, Proteus, PS, cavernous, venous, glomuvenous, GVM, BMPR2, CAV1, CCBE1, CCM2, EIF2AK4, ELMO2, EPHB4, FAT4, FLT4, FOXC2, GATA2, GDF2, GJC2, KCNK3, PDCD10, PIEZO1, PIK3CA, SMAD9, SOX18, STAMBP, VEGFC |
| Hereditary Myeloid NeoplasmsMyelodysplastic syndrome (MDS), Acute myeloid leukemia (AML) |
| 3001842 |
Hereditary Myeloid Neoplasms Panel, Sequencing |
Additional Technical Information |
Myelodysplastic syndrome (MDS), Acute myeloid leukemia (AML) |
| Hereditary Paraganglioma-Pheochromocytoma SyndromesHereditary Paraganglioma-Pheochromocytoma Syndromes, PGL/PCC, SDHA FGS |
| 3005912 |
Hereditary Paraganglioma-Pheochromocytoma Expanded Panel, Sequencing and Deletion/Duplication |
|
Hereditary Paraganglioma-Pheochromocytoma Expanded Panel, Sequencing and Deletion/Duplication) |
| 3004480 |
Hereditary Paraganglioma-Pheochromocytoma (SDHA, SDHB, SDHC, and SDHD) Panel, Sequencing and Deletion/Duplication |
|
Adrenal cortical adenoma; adrenal medulla tumor; Carney-Stratakis syndrome; carotid body tumors and multiple extra-adrenal pheochromocytomas; esophageal leiomyoma; gastrointestinal stromal tumor; GIST; hereditary paraganglioma-pheochromocytoma; HNPGL; jugulotympanic paraganglioma; mitochondrial complex II deficiency, nuclear type 1; mitochondrial complex II deficiency, nuclear type 3; mitochondrial complex II deficiency, nuclear type 4; neuroendocrine tumor; papillary thyroid carcinoma; paraganglioma; paragangliomas 1; paragangliomas 3; paragangliomas 4; paragangliomas 5; paraganglioma and gastric stromal sarcoma; PCC; PGL; PGL/PCC; pituitary adenoma; pulmonary chondroma; renal clear cell carcinoma; succinate dehydrogenase; succinate dehydrogenase, subunit A; succinate dehydrogenase, subunit B; succinate dehydrogenase, subunit C; succinate dehydrogenase, subunit D; vagal paraganglioma |
| Heterotaxy/Situs InversusKartagener syndrome, primary ciliary dyskinesia, situs inversus totalis, situs ambiguous, situs ambiguus, ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10, Kartagener syndrome |
| 3002682 |
Heterotaxy and Situs Inversus Panel, Sequencing |
|
Kartagener syndrome, primary ciliary dyskinesia, situs inversus totalis, situs ambiguous, situs ambiguus |
| 3001621 |
Primary Ciliary Dyskinesia Panel, Sequencing |
|
ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10, Kartagener syndrome |
| HLA TestingHLA Testing, HLA I NGS, HLA II NGS, HLA A NGS, HLA B NGS, HLA C NGS, HLA DRB1, HLA DQB1, HLA DPB1 |
| 3002307 |
HLA Class I Panel (ABC) by Next Generation Sequencing |
|
HLA Testing, HLA A NGS |
| 3002061 |
HLA Class I and II Panel (A,B,C,DRB1, DQA1, DQB1, DPB1) by Next Generation Sequencing |
|
HLA Testing, HLA B NGS |
| 3002062 |
HLA Class I and II Panel (A,B,C,DRB1, DRB345, DQA1, DQB1, DPA1, DPB1) by Next Generation Sequencing |
|
HLA Testing, HLA C NGS |
| 3002308 |
HLA Class II Panel (DRB1, DQA1 and DQB1) by Next Generation Sequencing |
|
HLA Testing, HLA DRB1 |
| 2012494 |
HLA-DRB1 by Next Generation Sequencing |
|
HLA Testing, HLA DQB1 |
| HLA-B Pharmacogenetic Testing |
| 2012049 |
HLA-B*15:02 Genotyping, Carbamazepine Hypersensitivity |
|
HLA-B*15:02 (Carbamazepine Hypersensitivity) Genotyping, pharmacogenetics, PGX |
| 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 |
| 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 |
| 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 |
| Loeys-Dietz SyndromeLoeys-Dietz Syndrome, LDS FGS, Loeys-Dietz, aortic aneurysm, connective tissue |
| 3003947 |
Loeys-Dietz Syndrome Core Panel, Sequencing |
|
Loeys-Dietz Syndrome, LDS FGS, Loeys-Dietz, aortic aneurysm, connective tissue |
| Lynch Syndrome |
| 3001605 |
Lynch Syndrome Panel, Sequencing and Deletion/Duplication |
|
MLH1, MSH2, MSH6, PMS2, EPCAM, Hereditary nonpolyposis colorectal cancer (HNPCC), Muir-Torre syndrome, Turcot syndrome, Constitutional Mismatch Repair Deficiency (CMMRD) |
| 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 |
| 3004308 |
MLH1 Promoter Methylation |
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 |
| 3004277 |
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 |
| Lysosomal Acid LipaseLysosomal Acid Lipase, Wolman Disease, cholesteryl ester storage disease |
| 2012266 |
Lysosomal Acid Lipase Activity, Dried Blood Spot |
|
Lysosomal Acid Lipase, Wolman Disease, cholesteryl ester storage disease |
| Malignant Hyperthermia SusceptibilityCACNA1S, RYR1, Malignant hyperthermia susceptibility (MHS), malignant hyperpyrexia |
| 3002688 |
Malignant Hyperthermia Panel, Sequencing |
|
CACNA1S, RYR1, Malignant hyperthermia susceptibility (MHS), malignant hyperpyrexia |
| Methylenetetrahydrofolate Reductase (MTHFR)Methylenetetrahydrofolate Reductase (MTHFR), MTHFR PCR, Thrombophilia, methotrexate sensitivity, cardiovascular, C677T, A1298C |
| 0055655 |
Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations |
|
Methylenetetrahydrofolate Reductase (MTHFR), MTHFR PCR, Thrombophilia, methotrexate sensitivity, cardiovascular, C677T, A1298C |
| Methylmalonic Acid |
| 2005255 |
Methylmalonic Acid, Serum or Plasma (Metabolic Disorders) |
|
Methylmalonic Acid, MMA METD Methylmalonic Acidemia Methylmalonicaciduria Methylmalonic Aciduria MCEE-Related Methylmalonic Acidemia MMAA-Related Methylmalonic Acidemia MMAB-Related Methylmalonic Acidemia MMADHC-Related Methylmalonic Acidemia MUT-Related Methylmalonic Acidemia MCEE Methylmalonyl-CoA epimerase, mitochondrial MMAA Methylmalonic aciduria type A protein, mitochondrial MMAB Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial MMADHC Methylmalonic aciduria and homocystinuria type D protein, mitochondrial MUT Methylmalonyl-CoA mutase, mitochondrial MMA |
| Mitochondrial Disorders |
| 3001959 |
Mitochondrial Disorders Panel (mtDNA and Nuclear Genes) |
|
|
| 3001965 |
Mitochondrial Disorders (mtDNA) Sequencing and Deletion Analysis by NGS |
|
|
| MODY and Neonatal DiabetesABCC8, Diabetes mellitus, permanent neonatal 3, with or without neurologic features, Diabetes mellitus, transient neonatal 2, Hyperinsulinemic hypoglycemia, familial, 1, Hypoglycemia of infancy, leucine sensitive, APPL1, BLK, CEL, EIF2AK3, Wolcott-Rallison syndrome, FOXP3, Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, GATA4, GATA6, Pancreatic agenesis and congenital heart defects, GCK, NIDDM, late onset, Hyperinsulinemic hypoglycemia, familial, 3, Diabetes mellitus, permanent neonatal 1, HNF1A, NIDDM 2, IDDM 20, HNF1B, NIDDM, Renal cysts and diabetes syndrome, HNF4A, NIDDM, Fanconi renotubular syndrome 4, with MODY, INS, IDDM2, Diabetes mellitus, permanent neonatal, Hyperproinsulinemia, KCNJ11, Diabetes mellitus, transient neonatal, 3, Diabetes, permanent neonatal 2, with or without neurologic features, Hyperinsulinemic hypoglycemia, familial 2, KLF11, NEUROD1, NEUROG3, Diarrhea 4, malabsorptive, congenital, PAX4, Diabetes mellitus, type 2, PDX1, Pancreatic agenesis 1, RFX6, Mitchell-Riley syndrome, SLC19A2, Thiamine-responsive megaloblastic anemia syndrome, WFS1, NIDDM, Wolfram-like syndrome, AD, Wolfram syndrome 1, ZFP57, Diabetes mellitus, transient neonatal |
| 3001593 |
MODY and Neonatal Diabetes Panel, Sequencing |
|
ABCC8, Diabetes mellitus, permanent neonatal 3, with or without neurologic features, Diabetes mellitus, transient neonatal 2, Hyperinsulinemic hypoglycemia, familial, 1, Hypoglycemia of infancy, leucine sensitive, APPL1, BLK, CEL, EIF2AK3, Wolcott-Rallison syndrome, FOXP3, Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, GATA4, GATA6, Pancreatic agenesis and congenital heart defects, GCK, NIDDM, late onset, Hyperinsulinemic hypoglycemia, familial, 3, Diabetes mellitus, permanent neonatal 1, HNF1A, NIDDM 2, IDDM 20, HNF1B, NIDDM, Renal cysts and diabetes syndrome, HNF4A, NIDDM, Fanconi renotubular syndrome 4, with MODY, INS, IDDM2, Diabetes mellitus, permanent neonatal, Hyperproinsulinemia, KCNJ11, Diabetes mellitus, transient neonatal, 3, Diabetes, permanent neonatal 2, with or without neurologic features, Hyperinsulinemic hypoglycemia, familial 2, KLF11, NEUROD1, NEUROG3, Diarrhea 4, malabsorptive, congenital, PAX4, Diabetes mellitus, type 2, PDX1, Pancreatic agenesis 1, RFX6, Mitchell-Riley syndrome, SLC19A2, Thiamine-responsive megaloblastic anemia syndrome, WFS1, NIDDM, Wolfram-like syndrome, AD, Wolfram syndrome 1, ZFP57, Diabetes mellitus, transient neonatal, 1 |
| Mucolipidosis IVMucolipidosis IV, Keratan Sulfate, Quantitative by LC-MS/MS, Urine, MPS IVa, MCOLN1, Jewish Genetic, lysosomal, Ashkenazi Jewish |
| 2012259 |
Keratan Sulfate, Quantitative by LC-MS/MS, Urine |
|
Mucolipidosis IV, Keratan Sulfate, Quantitative by LC-MS/MS, Urine, MPS IVa |
| 0051448 |
Mucolipidosis Type IV (MCOLN1), 2 Variants |
|
Mucolipidosis IV, MCOLN1, Jewish Genetic, lysosomal, Ashkenazi Jewish |
| Mucopolysaccharidoses (MPS)Mucopolysaccharidoses (MPS), MPS SCREEN Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI Hunter Syndrome Mucopolysaccharidosis Type II I2S Deficiency Iduronate 2-Sulfatase Deficiency MPS II IDS Iduronate 2-sulfatase MPSII MPS IIIA Mucopolysaccharidosis Type IIIA Sanfilippo Syndrome Type A SGSH N-sulphoglucosamine sulphohydrolase MPS III MPSIII MPS IIIB Mucopolysaccharidosis Type IIIB Sanfilippo Syndrome Type B NAGLU Alpha-N-acetylglucosaminidase MPS IIIC Mucopolysaccharidosis Type IIIC Sanfilippo Syndrome Type C HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase MPS IIID Mucopolysaccharidosis Type IIID Sanfilippo Syndrome Type D GNS N-acetylglucosamine-6-sulfatase Morquio Syndrome Type A Mucopolysaccharidosis Type IVA MPS IVA GALNS N-acetylgalactosamine-6-sulfatase MPSIV MPS IV Morquio Syndrome Type B Mucopolysaccharidosis Type IVB MPS IVB GLB2 Beta-galactosidase Arylsulfatase B Deficiency Mucopolysaccharidosis Type VI Maroteaux-Lamy Syndrome MPS VI ARSB Arylsulfatase B MPSVI Beta-Glucuronidase Deficiency Mucopolysaccharidosis Type VII Glucuronidase Deficiency MPS MPS VII Sly Syndrome GUSB Beta-glucuronidase MPSVII, MPS2 QNT S, Hunter Syndrome, Mucopolysaccharidosis Type II, I2S Deficiency, Iduronate 2-Sulfatase Deficiency, MPS II, IDS, Iduronate 2-sulfatase, MPSII |
| 0081352 |
Mucopolysaccharides Electrophoresis and Quantitation, Urine |
|
Mucopolysaccharidoses (MPS), MPS SCREEN Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI Hunter Syndrome Mucopolysaccharidosis Type II I2S Deficiency Iduronate 2-Sulfatase Deficiency MPS II IDS Iduronate 2-sulfatase MPSII MPS IIIA Mucopolysaccharidosis Type IIIA Sanfilippo Syndrome Type A SGSH N-sulphoglucosamine sulphohydrolase MPS III MPSIII MPS IIIB Mucopolysaccharidosis Type IIIB Sanfilippo Syndrome Type B NAGLU Alpha-N-acetylglucosaminidase MPS IIIC Mucopolysaccharidosis Type IIIC Sanfilippo Syndrome Type C HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase MPS IIID Mucopolysaccharidosis Type IIID Sanfilippo Syndrome Type D GNS N-acetylglucosamine-6-sulfatase Morquio Syndrome Type A Mucopolysaccharidosis Type IVA MPS IVA GALNS N-acetylgalactosamine-6-sulfatase MPSIV MPS IV Morquio Syndrome Type B Mucopolysaccharidosis Type IVB MPS IVB GLB2 Beta-galactosidase Arylsulfatase B Deficiency Mucopolysaccharidosis Type VI Maroteaux-Lamy Syndrome MPS VI ARSB Arylsulfatase B MPSVI Beta-Glucuronidase Deficiency Mucopolysaccharidosis Type VII Glucuronidase Deficiency MPS MPS VII Sly Syndrome GUSB Beta-glucuronidase MPSVII |
| 0081357 |
Mucopolysaccharides, Quantitative, Urine |
|
Mucopolysaccharidoses (MPS), MPS QNT Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI Hunter Syndrome Mucopolysaccharidosis Type II I2S Deficiency Iduronate 2-Sulfatase Deficiency MPS II IDS Iduronate 2-sulfatase MPSII MPS IIIA Mucopolysaccharidosis Type IIIA Sanfilippo Syndrome Type A SGSH N-sulphoglucosamine sulphohydrolase MPS III MPSIII MPS IIIB Mucopolysaccharidosis Type IIIB Sanfilippo Syndrome Type B NAGLU Alpha-N-acetylglucosaminidase MPS IIIC Mucopolysaccharidosis Type IIIC Sanfilippo Syndrome Type C HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase MPS IIID Mucopolysaccharidosis Type IIID Sanfilippo Syndrome Type D GNS N-acetylglucosamine-6-sulfatase Morquio Syndrome Type A Mucopolysaccharidosis Type IVA MPS IVA GALNS N-acetylgalactosamine-6-sulfatase MPSIV MPS IV Morquio Syndrome Type B Mucopolysaccharidosis Type IVB MPS IVB GLB1 Beta-galactosidase Arylsulfatase B Deficiency Mucopolysaccharidosis Type VI Maroteaux-Lamy Syndrome MPS VI ARSB Arylsulfatase B MPSVI Beta-Glucuronidase Deficiency Mucopolysaccharidosis Type VII Glucuronidase Deficiency MPS MPS VII Sly Syndrome GUSB Beta-glucuronidase MPSVII, A-I LEUK Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI |
| 2011415 |
Alpha-Iduronidase Enzyme Activity in Leukocytes |
|
Mucopolysaccharidoses (MPS), A-I LEUK Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I IDUA Deficiency MPS I Hurler Syndrome Hurler-Scheie Syndrome Scheie Syndrome IDUA Alpha-L-iduronidase MPSI |
| 3003566 |
Mucopolysaccharidoses Type 1/2, Total Heparan Sulfate and NRE (Sensi-Pro®) Quantitative, Serum or Plasma |
|
Heparan Sulfate total and NRE, Serum/Plasma, HS non reducing end assay, MPS 1, MPS 2, MPS I, MPS II, MPS Type 1, MPS Type 2 |
| 3003552 |
Mucopolysaccharidoses Type 1/2, Total Heparan Sulfate and NRE (Sensi-Pro®) Quantitative, Urine |
|
heparan sulfate, HS non reducing end assay, MPS 1, MPS 2, MPS I, MPS II, MPS Type 1, MPS Type 2, Urine mucopolysaccharides total and NRE, Urine total and NRE mucopolysaccharides |
| 3003487 |
Mucopolysaccharidoses Type 4A/6 Total Chondroitin Sulfate and Dermatan Sulfate with NRE (Sensi-Pro®) Quantitative, Serum |
|
CS non reducing end assay, DS non reducing end assay, MPS 4a, MPS 6, MPS type 4a, MPS type 6, Mucopolysaccharides, Total Chondroitin Sulfate, Total Dermatan Sulfate |
| 3003539 |
Mucopolysaccharidoses Type 4A/6 Total CS-DS and NRE (Sensi-Pro®) Quantitative, Urine |
|
CS non reducing end assay, DS non reducing end assay, MPS 4a, MPS 6, MPS type 4a, MPS type 6, Mucopolysaccharides, Total Chondroitin Sulfate, Total Dermatan Sulfate |
| Multiple Endocrine Neoplasia |
| 3004437 |
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) |
| 3004572 |
Multiple Endocrine Neoplasia Type 2 (MEN2), RET Sequencing |
|
Multiple Endocrine Neoplasia Type 2 (MEN2), MEN2 SEQ, Thyroid Cancer, Pheochromocytoma, Multiple Endocrine Neoplasias (MEN), MEN 2A, MEN 2B, familial medullary thyroid carcinoma, FMTC, RET proto-oncogene |
| Muscular DystrophyMuscular Dystrophy, DMD REFLEX, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD, DMD DD, DMD DD FE |
| 2011241 |
Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing |
|
Muscular Dystrophy, DMD REFLEX, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD |
| 2011235 |
Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication |
|
Muscular Dystrophy, DMD DD, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD |
| 2011153 |
Duchenne/Becker Muscular Dystrophy (DMD) Sequencing |
|
Muscular Dystrophy, DMD SEQ, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD |
| 2011231 |
Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal |
|
Muscular Dystrophy, DMD DD FE, Dystrophin, Duchenne, Becker, Dystrophinopathy, Dystrophinopathies, DMD, BMD |
| 3001839 |
Emery-Dreifuss Muscular Dystrophy Panel, Sequencing |
|
EMD, FHL1, LMNA, EDMD1, EDMD2, EDMD3, EDMD6 |
| 3001907 |
Myotonic Dystrophy Type 1 (DMPK) CTG Expansion |
|
Muscular Dystrophy, DM1, CTG repeat |
| NarcolepsyNarcolepsy, NARCOLEPSY, Narcolepsy, HLA-DQB1, sleep |
| 2005023 |
Narcolepsy (HLA-DQB1*06:02) Genotyping |
|
Narcolepsy, NARCOLEPSY, Narcolepsy, HLA-DQB1, sleep |
| Neurofibromatosis Type 1 and Legius SyndromeNeurofibromatosis Type 1 and Legius Syndrome |
| 3003927 |
Neurofibromatosis Type 1 and Legius Syndrome Panel, Sequencing and Deletion/Duplication |
|
Neurofibromatosis Type 1, |
| Non-Alcoholic Fatty Liver DiseaseNon-Alcoholic Fatty Liver Disease, hepatic steatosis genotyping |
| 2014599 |
Non-Alcoholic Fatty Liver Disease Susceptibility (PNPLA3) Genotyping |
|
NF1, SPRED1, Von Recklinghausen Disease |
| Non-Invasive Prenatal Aneuploidy Screen (Cell-Free DNA)Non-Invasive Prenatal Aneuploidy Screen (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 |
| 3003043 |
Non-Invasive Prenatal Aneuploidy Screen by cell-free DNA Sequencing |
|
45,x, aneuploidy, aneuploidy screening, cell-free, cellfree, cfDNA, cfDNA screening, cffDNA, chromosome abnormality, Down syndrome, Edward syndrome, fetal fraction, Klinfelter syndrome, monosomy X, NIPD, NIPS, NIPT, NIPT blood test, NIPT testing, NIPTFE, non-invasive prenatal screening, non-invasive prenatal testing, noninvasive prenatal screening, noninvasive prenatal testing, Patau syndrome, prenatal aneuploidy screening, prenatal screening, sex chromosome aneuploidy, T13, T18, T21, triple X syndrome, trisomy 13, trisomy 18, trisomy 21, Turner syndrome, XXX, XXY, XYY |
| 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 |
| 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 |
| 3016654 |
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 |
|
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 |
|
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 |
|
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 |
|
Oncology Studies, FISH—Paraffin Block, EWSR1, Ewing Sarcoma, Sarcoma, Tumor Markers |
| 3001297 |
FOXO1 (FKHR) (13q14) Gene Rearrangement by FISH |
|
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 |
|
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 |
|
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 |
|
Oncology Studies, FISH—Paraffin Block, Burkitt lymphoma, B-Cell Lymphomas |
| 3001568 |
IRF4/DUSP22 (6p25) Gene Rearrangement by FISH |
Additional Technical Information |
Oncology Studies, FISH—Paraffin Block, |
| 3001313 |
MET Gene Amplification by FISH |
|
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 |
|
Oncology Studies, FISH—Paraffin Block, Burkitt lymphomas, B-Cell Lymphomas, Double Hit lymphomas, Tumor Markers |
| 3001307 |
MYCN (N-MYC) Gene Amplification by FISH |
|
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 |
|
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, |
| 3004275 |
Cytogenomic Molecular Inversion Probe Array FFPE Tissue – Oncology |
|
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 |
| 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 |
| Orotic AcidOrotic Acid, OROTIC ACI Arginase Deficiency Hyperargininemia ARG1 Arginase-1 ARG 1 Arginemia Argininosuccinate Lyase Deficiency Argininosuccinic Acid Lyase Deficiency ASL Deficiency ASL Argininosuccinate lyase ASA lyase deficiency Carbamoylphosphate Synthetase I Deficiency Carbamyl Phosphate Synthetase Deficiency CPS1 Deficiency CPS1 Carbamoyl-phosphate synthase [ammonia], mitochondrial CPS 1 CPS I Citrullinemia Type I Argininosuccinate Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency ASS Deficiency Citrullinemia, Classic CTLN1 ASS1 ASS1 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Orotic Aciduria UMPS Uridine 5'-monophosphate synthase |
| 3000704 |
Orotic Acid, Urine |
|
Orotic Acid, OROTIC ACI Arginase Deficiency Hyperargininemia ARG1 Arginase-1 ARG 1 Arginemia Argininosuccinate Lyase Deficiency Argininosuccinic Acid Lyase Deficiency ASL Deficiency ASL Argininosuccinate lyase ASA lyase deficiency Carbamoylphosphate Synthetase I Deficiency Carbamyl Phosphate Synthetase Deficiency CPS1 Deficiency CPS1 Carbamoyl-phosphate synthase [ammonia], mitochondrial CPS 1 CPS I Citrullinemia Type I Argininosuccinate Synthetase Deficiency Argininosuccinic Acid Synthetase Deficiency ASS Deficiency Citrullinemia, Classic CTLN1 ASS1 ASS1 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Mitochondrial Ornithine Transporter Deficiency HHH Syndrome SLC25A15 Mitochondrial ornithine transporter 1 Lysinuric Protein Intolerance SLC7A7 Cationic Aminoaciduria Y+L amino acid transporter 1 LPI Ornithine Transcarbamylase Deficiency OTC Deficiency OTC Ornithine carbamoyltransferase, mitochondrial Orotic Aciduria UMPS Uridine 5'-monophosphate synthase |
| Osteogenesis ImperfectaALPL, Hypophosphatasia, ANO5, Gnathodiaphyseal dysplasia, BMP1, OI, type XIII, CASR, Hyperparathyroidism, neonatal severe, CLCN5, Hypophosphatemic rickets, Dent disease 1, COL1A1, Caffey disease, OI types I, II, III, and IV, Ehlers-Danlos syndrome, Arthrochalasia type 1 , COL1A2, Ehlers-Danlos syndrome, Arthrochalasia type 2, CREB3L1, OI, type XVI, CRTAP, OI, type VII, CYP27B1, Vitamin D hydroxylation, FKBP10, Bruck syndrome 1, OI, type XI, GORAB, Geroderma osteodysplasticum, IFITM5, OI, type V, LRP5, Endosteal hyperostosis, Van Buchem disease, type 2, Osteoporosis-pseudoglioma syndrome, Exudative vitreoretinopathy 4, P3H1, OI, type VIII, P4HB, Cole-Carpenter syndrome 1, PLOD2, Bruck syndrome 2, PLS3, PPIB, OI, type IX, SEC24D, Cole-Carpenter syndrome 2, SERPINF1, OI, type VI, SERPINH1, OI, type X, SLC34A3, Hypophosphatemic rickets with hypercalciuria, hereditary, SP7, OI, type XII, SPARC, OI, type XVII, TMEM38B, OI, type XIV, WNT1, OI, type XV |
| 3001607 |
Osteogenesis Imperfecta and Low Bone Density Panel, Sequencing |
|
ALPL, Hypophosphatasia, ANO5, Gnathodiaphyseal dysplasia, BMP1, OI, type XIII, CASR, Hyperparathyroidism, neonatal severe, CLCN5, Hypophosphatemic rickets, Dent disease 1, COL1A1, Caffey disease, OI types I, II, III, and IV, Ehlers-Danlos syndrome, Arthrochalasia type 1 , COL1A2, Ehlers-Danlos syndrome, Arthrochalasia type 2, CREB3L1, OI, type XVI, CRTAP, OI, type VII, CYP27B1, Vitamin D hydroxylation, FKBP10, Bruck syndrome 1, OI, type XI, GORAB, Geroderma osteodysplasticum, IFITM5, OI, type V, LRP5, Endosteal hyperostosis, Van Buchem disease, type 2, Osteoporosis-pseudoglioma syndrome, Exudative vitreoretinopathy 4, P3H1, OI, type VIII, P4HB, Cole-Carpenter syndrome 1, PLOD2, Bruck syndrome 2, PLS3, PPIB, OI, type IX, SEC24D, Cole-Carpenter syndrome 2, SERPINF1, OI, type VI, SERPINH1, OI, type X, SLC34A3, Hypophosphatemic rickets with hypercalciuria, hereditary, SP7, OI, type XII, SPARC, OI, type XVII, TMEM38B, OI, type XIV, WNT1, OI, type XV |
| Ovarian CancerOvarian Cancer, BOCAPAN, Breast Cancer, Tumor Markers, FISH, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, HBOC, DICER1, MRE11, NF1, PMS2, RECQL, BRCA FGA, BRACA, HBOC, MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch, HNPCC DD, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Syndrome, PMS2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch |
| 2012026 |
Hereditary Breast and Gynecological Cancers 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 |
| Pancreatic CancerPancreatic Cancer |
| 3005708 |
Hereditary Pancreatic Cancer Panel, Sequencing and Deletion/Duplication |
- Additional Technical Information
|
Pancreatic Cancer |
| PancreatitisPancreatitis, SPINK1 FGS, Idiopathic pancreatitis, acute pancreatitis, N34S, PSTI, pancreatic secretory trypsin inhibitor, Idiopathic pancreatitis, CTRC Sequencing |
| 3004788 |
Pancreatitis, Panel (CFTR, CTRC, PRSS1, SPINK1) Sequencing |
|
Pancreatitis, |
| 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) |
| 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 |
| 3004434 |
Familial Mediterranean Fever (MEFV) Sequencing |
|
Periodic Fever Syndromes, FMF FGS, DNA |
| Peroxisomal DisordersPeroxisomal Disorders, ABCD3, ACBD5, ACOX1, AGPS, AGXT, AMACR, DNM1L, FAR1, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2 Zellweger spectrum disorder, Zellweger syndrome, Refsum disease, infantile Refsum disease, rhizomelic chondrodysplasia punctata, peroxisomal acyl-CoA oxidase deficiency, hyperoxaluria, Heimler syndrome, Mitchell syndrome, defects of bile acid synthesis, congenital bile acid synthesis defect, primary hyperoxaluria, Perrault syndrome, bifunctional enzyme deficiency, PEX, RCDP |
| 3002700 |
Peroxisomal Disorders Panel, Sequencing |
|
ABCD3, ACBD5, ACOX1, AGPS, AGXT, AMACR, DNM1L, FAR1, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2 Zellweger spectrum disorder, Zellweger syndrome, Refsum disease, infantile Refsum disease, rhizomelic chondrodysplasia punctata, peroxisomal acyl-CoA oxidase deficiency, hyperoxaluria, Heimler syndrome, Mitchell syndrome, defects of bile acid synthesis, congenital bile acid synthesis defect, primary hyperoxaluria, Perrault syndrome, bifunctional enzyme deficiency, PEX, RCDP |
| Pharmacogenetics Panels |
| 3004471 |
Pharmacogenetics Panel: Psychotropics |
|
pharmacogenetics, psychotropics |
| 3006366 |
Pharmacogenetics Panel: Psychotropics, with GeneDose Access |
|
pharmacogenetics, psychotropics |
| 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 |
| 3016673 |
Platelet Antigen Genotyping Panel, Fetal |
|
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 |
| 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 |
| 3006247 |
Angelman Syndrome and Prader-Willi Syndrome by Methylation-Specific MLPA |
|
Angelman Syndrome, AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments, UBE3A |
| 2002299 |
Chromosome FISH, Metaphase—Prader-Willi syndrome (15q11.2-13) |
|
Prader-Willi Syndrome, PWS; D15S10 |
| 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 |
| Prostate CancerProstate Cancer |
| 3005686 |
Hereditary Prostate Cancer Panel, Sequencing and Deletion/Duplication |
- Additional Technical Information
|
Prostate Cancer |
| 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 |
| 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 |
| 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 |
| 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 |
| RetinoblastomaRetinoblastoma |
| 3005696 |
Hereditary Retinoblastoma (RB1) Sequencing and Deletion/Duplication |
- Additional Technical Information
|
Retinoblastoma |
| 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 |
| 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 Deficiency DisordersSHOX Deficiency Disorders, Langer mesomelic dysplasia (LMD), Leri-Weill dyschondrosteosis (LWD), ISS, LWD, LMD, short stature, haploinsufficiency |
| 3004603 |
SHOX Deficiency Disorders, Sequencing and Deletion/Duplication |
|
SHOX Deficiency 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 |
| Skin Cancer |
| 3002673 |
Hereditary Melanoma Panel, Sequencing and Deletion/Duplication |
- Additional Technical Information
|
|
| Spinal Muscular Atrophy (SMA)Spinal Muscular Atrophy (SMA), SMA DD, SMA DD FE, SMN1, SMN2 |
| 2013436 |
Spinal Muscular Atrophy (SMA) Copy Number Analysis |
|
Spinal Muscular Atrophy (SMA), SMA DD, SMN1, SMN2 |
| 2013444 |
Spinal Muscular Atrophy (SMA) Copy Number Analysis, Fetal |
|
Spinal Muscular Atrophy (SMA), SMA DD FE, SMN1, SMN2 |
| Statin SensitivityStatin Sensitivity, SLCO1B1, stimvastatin, Solute Carrier Organic Anion Transporter Family Member 1B1, rs4149056C, SLCO1B1*5, OATP1B1, organic anion-transporter polypeptide 1B1, pharmacogenetics, PGX |
| 2008426 |
SLCO1B1, 1 Variant |
|
Statin Sensitivity, SLCO1B1, stimvastatin, Solute Carrier Organic Anion Transporter Family Member 1B1, rs4149056C, SLCO1B1*5, OATP1B1, organic anion-transporter polypeptide 1B1, pharmacogenetics, PGX |
| Stickler Syndrome |
| 3001613 |
Stickler Syndrome Panel, Sequencing |
|
achondrogenesis,fibrochondrogenesis,Kneist dysplasia,Legg-Calve-Perthes disease, Marshall syndrome,multiple epiphyseal dysplasia,otospondylomegaepiphyseal dysplasia,platyspondylic lethal skeletal dysplasia,spondyloepiphyseal dysplasia,spondyloperipheral dysplasia, type II collagenopathy,Wagner vitreoretinopathy,COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, VCAN |
| SuccinylacetoneSuccinylacetone, Tyrosinemia Type I, FAH, Fumarylacetoacetase, Fumarylacetoacetate Hydrolase, Hepatorenal, SUAC URINE |
| 2007401 |
Succinylacetone, Quantitative, Urine |
|
Succinylacetone, Tyrosinemia Type I, FAH, Fumarylacetoacetase, Fumarylacetoacetate Hydrolase, Hepatorenal, SUAC URINE |
| Tay-Sachs DiseaseTay-Sachs Disease, HEXO RFLX, Tay-Sachs, HEX A Deficiency, GM2 Gangliosidosis, HEXA, HEXOA LEUK, HEXA FGS, HEXA, Jewish Genetic, Hex A, GM2 gangliosidosis, hexosaminidase, lysosomal storage, delta 7.6kb, IVS9(+1)G>A, 1278insTATC, IVS12(+1)G>C, G269S, R247W, R249W, Ashkenazi Jewish |
| 3004486 |
Tay-Sachs Disease (HEXA) Sequencing and Deletion/Duplication |
|
hexosaminidase A, beta-hexosaminidase A, GM2 gangliosidosis |
| 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 |
| Thyroid Cancer |
| 3005944 |
Hereditary Thyroid Cancer Panel, Sequencing and Deletion/Duplication |
- Additional Technical Information
|
|
| 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 |
| 3004386 |
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 |
| 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 |
| Von Willebrand Diseasevon Willebrand Disease, VWF2A SEQ, VWD, bleeding, GP1BA SEQ |
| 3004379 |
von Willebrand Disease (VWF) Sequencing |
|
VWF2A, VWF2N, VWF2M, VWF2B, Type 2A, Type 2N, Type 2M, Type 2B, VWD, VWD2A, VWD2N, VWD2M, VWD2B, VWF NGS |
| Warfarin GenotypingWarfarin Genotyping, warfarin, Coumadin, pharmacogenetics, PGX |
| 3001541 |
Warfarin Sensitivity (CYP2C9, CYP2C cluster, CYP4F2, VKORC1) Genotyping |
|
Warfarin Genotyping, warfarin, Coumadin, pharmacogenetics, PGX |
| Wilson DiseaseWilson Disease, copper |
| 3004411 |
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 |
| Y Chromosome MicrodeletionY Chromosome Microdeletion, Y CHROM, Male Infertility, PCR |
| 2001778 |
Y Chromosome Microdeletion |
|
Y Chromosome Microdeletion, Y CHROM, Male Infertility, PCR |
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