Genetic Tests

This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

Genetic Test Genes Related Drugs
LabCorp Cystic Fibrosis (CF) Gene Sequencing CFTR
ivacaftor
Roche AmpliChip CYP450 Test CYP2C19
CYP2D6
amitriptyline, clomipramine, clopidogrel, codeine, desipramine, doxepin, esomeprazole, fluoxetine, imipramine, metoprolol, nortriptyline, omeprazole, paroxetine, phenytoin, risperidone, tamoxifen, trimipramine
DMET Plus (Affymetrix, Inc) CYP2C19
CYP2C9
CYP2D6
SLCO1B1
TPMT
VKORC1
amitriptyline, azathioprine, clomipramine, clopidogrel, codeine, desipramine, doxepin, fluoxetine, imipramine, mercaptopurine, nortriptyline, paroxetine, simvastatin, thioguanine, trimipramine, warfarin
VeraCode ADME Core Panel (Illumina, Inc) CYP2C19
CYP2C9
CYP2D6
SLCO1B1
VKORC1
amitriptyline, clomipramine, clopidogrel, codeine, desipramine, doxepin, fluoxetine, imipramine, nortriptyline, paroxetine, simvastatin, trimipramine, warfarin
TaqMan Drug Metabolism Genotyping Assay Sets (Applied Biosystems, Inc) CYP2C19
CYP2C9
CYP2D6
VKORC1
amitriptyline, clomipramine, clopidogrel, codeine, desipramine, doxepin, fluoxetine, imipramine, nortriptyline, paroxetine, trimipramine, warfarin
Laboratory Corporation of America CYP2C19
CYP2D6
amitriptyline, clomipramine, clopidogrel, codeine, desipramine, doxepin, fluoxetine, imipramine, nortriptyline, paroxetine, trimipramine
Quest Diagnostics, Inc CYP2D6
amitriptyline, clomipramine, codeine, desipramine, doxepin, fluoxetine, imipramine, nortriptyline, paroxetine, trimipramine
TheraGuide 5-FU DPYD
TYMS
capecitabine, fluorouracil
Genelex Fluorouracil (5-FU) and DPD Enzyme Deficiency DPYD
capecitabine, fluorouracil
PathVysion HER-2 DNA Probe Kit ERBB2
trastuzumab
Labor für Humangenetik Synlab MVZ Humane Genetik München. Test for Glucose-6-Phosphate Dehydrogenase Deficiency G6PD
rasburicase
Emory Molecular Genetics Laboratory Emory University School of Medicine. Test for Glucose-6-Phosphate Dehydrogenase Deficiency G6PD
rasburicase
The Rare Disease Company, Centogene GmbH. Test for Glucose-6-Phosphate Dehydrogenase Deficiency G6PD
rasburicase
Medical Genetics Laboratory Diagenom GmbH. Test for Glucose-6-Phosphate Dehydrogenase Deficiency G6PD
rasburicase
Hehr Laboratory, Center for Human Genetics Regensburg University of Regensburg. Test for Glucose-6-Phosphate Dehydrogenase Deficiency G6PD
rasburicase
MVZ Dortmund, Dr. Eberhard and Partner, Test for Glucose-6-Phosphate Dehydrogenase Deficiency G6PD
rasburicase
Molecular Genetics Center for Human Genetics and Laboratory Medicine Martinsried, Test for Glucose-6-Phosphate Dehydrogenase Deficiency G6PD
rasburicase
Molecular Biology Center, GENETAQ, Test for Glucose-6-Phosphate Dehydrogenase Deficiency G6PD
rasburicase
Pgx Predict: CLOZAPINE HLA-DQB1
clozapine
Prometheus TPMT Genetics TPMT
azathioprine, mercaptopurine
UGT1A1 (Camptosar/Irinotecan) GenotypR UGT1A1
irinotecan
Invader UGT1A1 Molecular Assay UGT1A1
irinotecan
BCR-ABL Quantitation; ABL Kinase Domain Sequencing ABL1
BCR
dasatinib, imatinib, nilotinib
Quest Diagnostics AccuType® IL28B test IFNL3
peginterferon alfa-2a, peginterferon alfa-2b, ribavirin
LabCorp Interleukin 28B (IL28B) Polymorphism (rs12979860) test IFNL3
peginterferon alfa-2a, peginterferon alfa-2b, ribavirin
ARUP 5-Fluorouracil (5-FU) Toxicity and Chemotherapeutic Response, 7 Mutations : 2007228 DPYD
MTHFR
TYMS
capecitabine, fluorouracil
Myriad TheraGuide 5-FU (includes DNA sequencing of all 23 coding exons and approximately 690 adjacent intronic base pairs of the DPYD gene.) DPYD
TYMS
capecitabine, fluorouracil
GenPath Dihydropyrimidine Dehydrogenase (DPD) Gene Mutation Analysis (DPD-5 FU) DPYD
capecitabine, fluorouracil
EntroGen DPYD Genotyping Kit - Fluorouracil Toxicity DPYD
capecitabine, fluorouracil
Labcorp DPD 5-Fluorouracil Toxicity (511176) DPYD
capecitabine, fluorouracil
MDL Dihydropyrimidine Dehydrogenase (DPD Enzyme Deficiency) DPYD
capecitabine, fluorouracil
Quest Dihydropyrimidine Dehydrogenase (DPD) Gene Mutation Analysis DPYD
capecitabine, fluorouracil
TransPredict: FCGR3A Test:RITUXIMAB FCGR3A
rituximab
TrimGen Corporation eQ-PCR LC Warfarin Genotyping Kit CYP2C9
VKORC1
warfarin
iPLEX ADME PGx (Sequenom, Inc) CYP2C19
amitriptyline, clomipramine, clopidogrel, doxepin, imipramine, trimipramine
AmpliChip CYP450 Test (Roche Molecular Systems, Inc) CYP2C19
amitriptyline, clomipramine, clopidogrel, doxepin, imipramine, trimipramine
eSensor 2C19 Genotyping Test (GenMark Diagnostics, Inc) CYP2C19
amitriptyline, clomipramine, clopidogrel, doxepin, imipramine, trimipramine
Luminex xTAG CYP2C19 CYP2C19
citalopram, clobazam, clopidogrel, diazepam, esomeprazole, lansoprazole, omeprazole, pantoprazole, prasugrel, rabeprazole, ticagrelor, voriconazole
Warfarin Genotyping Reagents (Idaho Technology Inc) CYP2C9
warfarin
INFINITI Warfarin Assay (IVD) (AutoGenomics, Inc) CYP2C9
warfarin
INFINITI CYP450 2C9-VKORC1 (AutoGenomics, Inc) CYP2C9
warfarin
eSensor Warfarin Sensitivity Test (GenMark Diagnostics, Inc) CYP2C9
warfarin
Verigene Warfarin Metabolism (Nanosphere, Inc) CYP2C9
warfarin
23andMe Fluorouracil Toxicity DPYD
capecitabine, fluorouracil
iPLEX ADME PGx (Sequenom, Inc) CYP2D6
amitriptyline, clomipramine, codeine, desipramine, doxepin, fluoxetine, imipramine, nortriptyline, paroxetine, trimipramine
DPYD ODPM Tox TM DPYD
Pyrimidine analogues
HLA-B*5701 Test HLA-B
abacavir
Warfarin Genotyping Reagents (Idaho Technology Inc) VKORC1
warfarin
INFINITI Warfarin Assay (IVD) (AutoGenomics, Inc) VKORC1
warfarin
eSensor Warfarin Sensitivity Test (GenMark Diagnostics, Inc) VKORC1
warfarin
Verigene Warfarin Metabolism (Nanosphere, Inc) VKORC1
warfarin
ARUP's Lab IL28B-Associated Variants Test IFNL3
peginterferon alfa-2a, peginterferon alfa-2b, ribavirin
HLA-B*5801 Typing (Allopurinol hypersensitivity) HLA-B
allopurinol
HLA-B*5801 for Allopurinol Induced Stevens-Johnson Syndrome Risk HLA-B
allopurinol
Identification of drug hypersensitivity related HLA genes, Including HLA-B*5801 with Allopurinol HLA-B
allopurinol
Pharmigene HLA-B*5801 Detection HLA-B
allopurinol
Luminex xTAG CYP2D6 Assay CYP2D6
amitriptyline, clomipramine, codeine, desipramine, doxepin, fluoxetine, imipramine, nortriptyline, paroxetine, trimipramine
HLA-B*1502 Carbamazepine Sensitivity HLA-B
carbamazepine, phenytoin
Molecular Genetics Laboratory ARUP Laboratories, Glucose-6-Phosphate Dehydrogenase (G6PD) 2 Mutations G6PD
dapsone, doxorubicin, flutamide, methylene blue, nalidixic acid, phenazopyridine, primaquine, rasburicase, sulfacetamide, sulfamethoxazole, sulfanilamide
TPMT GenotypR TPMT
azathioprine, mercaptopurine, thioguanine
Molecular Diagnostics Division, Genome Research Group Centre for Cellular and Molecular Biology. Test for Glucose-6-Phosphate Dehydrogenase Deficiency G6PD
rasburicase
QPS SLCO1B1 SLCO1B1
simvastatin
Spartan RX CYP2C19 System CYP2C19
amitriptyline, carisoprodol, chloramphenicol, citalopram, clomipramine, clopidogrel, cyclophosphamide, diazepam, hexobarbital, imipramine, indomethacin, lansoprazole, mephenytoin, methylphenobarbital, moclobemide, nelfinavir, nilutamide, omeprazole, pantoprazole, phenobarbital, phenytoin, primidone, progesterone, proguanil, propranolol, rabeprazole, voriconazole, warfarin
INFINITI CYP2C19 (AutoGenomics, Inc) CYP2C19
amitriptyline, clomipramine, clopidogrel, doxepin, imipramine, trimipramine
PerkinElmer Genetics, Inc. Test for Glucose-6-Phosphate Dehydrogenase Deficiency G6PD
rasburicase
Bioscientia GmbH Center for Human Genetics. Glucose-6-Phosphate Dehydrogenase Deficiency G6PD
rasburicase
bio.logis Center for Human Genetics. Test for Glucose-6-Phosphate Dehydrogenase Deficiency G6PD
rasburicase
EGFR PCR Kit EGFR
erlotinib, gefitinib
therascreen KRAS RGQ PCR Kit KRAS
cetuximab, panitumumab
INFINITI CYP450 2C19+ (AutoGenomics, Inc) CYP2C19
amitriptyline, clomipramine, clopidogrel, doxepin, imipramine, trimipramine
KRAS Mutation Detection Kit - Mutector II KRAS
cetuximab, panitumumab
INFINITI CYP450 2C9-VKORC1 (AutoGenomics, Inc) VKORC1
warfarin
Cytochrome P450 2D6 (CYP2D6) CYP2D6
amitriptyline, clomipramine, codeine, desipramine, doxepin, fluoxetine, imipramine, nortriptyline, paroxetine, trimipramine
GenoChip CYP2D6 (PharmGenomics, GmbH) CYP2D6
amitriptyline, aripiprazole, atomoxetine, carvedilol, citalopram, clomipramine, clozapine, codeine, doxepin, flecainide, flupenthixol, haloperidol, imipramine, metoprolol, mirtazapine, nortriptyline, olanzapine, oxycodone, paroxetine, propafenone, risperidone, tamoxifen, tramadol, venlafaxine, zuclopenthixol
INFINITI CYP450 2D6I (AutoGenomics, Inc) CYP2D6
amitriptyline, clomipramine, codeine, desipramine, doxepin, fluoxetine, imipramine, nortriptyline, paroxetine, trimipramine
ARUP Lab CFTR 32 mutations (PCR,oligonucleotide ligation, fragment analysis) CFTR
ivacaftor
23andme.com CFTR
ivacaftor
Ambry Genetics Cystic Fibrosis (pyrosequencing) CFTR
ivacaftor
Medical Diagnostic Laboratories Cystic Fibrosis Gene Carrier Screening (PCR, Bio-Plex liquid microarray analysis) CFTR
ivacaftor
Abbott Molecular Cystic Fibrosis Genotyping Assay (PCR, oligonucleotide ligation assay) CFTR
ivacaftor
Quest Diagnostics Cystic Fibrosis Screen (PCR, oligonucleotide ligation assay) CFTR
ivacaftor
Mayo Medical Laboratories Cystic Fibrosis Mutation Analysis, 106-Mutation Panel (multiplex PCR, sequenom mass array) CFTR
ivacaftor