. Author manuscript; available in PMC: 2010 Jul 27.

Published in final edited form as: Clin Pharmacol Ther. 2009 Jul;86(1):28–31. doi: 10.1038/clpt.2009.30

Table.

Selected pharmacogenetic tests available for clinical application.

Test^a	Pharmacogenetic marker	Drug example	Disease example	Test example
Required^a	EGFR expression^b	Cetuximab	Colorectal cancer	EGFR pharmDx™
	HER2/NEU overexpression^b	Trastuzumab	Breast cancer	Herceptest™
	CCR-5-tropic HIV-1^b	Maraviroc	HIV infection	Trofile™
	Presence of Philadelphia chromosome^b	Dasatinib	Acute lymphoblastic leukemia	BCR/ABL test

Recommended^a	HLA-B^1502*	Carbamazepine	Epilepsy	HLA typing
	HLA-B^5701*	Abacavir	HIV infection	HLA typing
	CYP2C9 variants	Warfarin	Thromoboembolism	Verigene® Warfarin
	VKORC1 variants			Metabolism Nucleic Acid Test
	TPMT variants	Azathioprine, 6-MP, Thioguanine	Acute lymphocytic leukemia	Prometheus Therapeutics & Diagnostics and others^c
	TPMT variants	Azathioprine, 6-MP, Thioguanine	Acute lymphocytic leukemia	Prometheus Therapeutics & Diagnostics and others^c
	UGT1A1 variants	Irinotecan	Colorectal cancer	Invader® UGT1A1 Molecular Assay
	G6PD deficiency^b	Rasburicase	Hyperuricemia	Glucose-6-phosphate dehydrogenase screening

Information only^a	c-KIT expression^b	Imatinib	Gastrointestinal stromal tumor	Dako Cytomation c-Kit pharmDx™
	CYP2C19 variants	Voriconazole	Fungal infection	Roche AmpliChip™ CYP450
	CYP2D6 variants	Atomoxetine, Tamoxifen, Voriconazole	Attention-deficit hyperactivity disease	Roche AmpliChip™ CYP450
	DPD deficiency^b	Capecitabine, 5-FU	Colorectal cancer	Genelex and others
	EGFR expression^b	Erlotinib	Non-small cell lung cancer	EGFR pharmDx™
	G6PD deficiency^b	Primaquine	Malaria	Glucose-6-phosphate dehydrogenase screening
	NAT variants	Isoniazid, Rifampin	Tuberculosis	Genelex and others^c
	Absence of Philadelphia	Busulfan	Chronic myelogenous leukemia	BCR/ABL test
	UGT1A1 variants	Nilotinib	Chronic myelogenous leukemia	Invader® UGT1A1 Molecular Assay

Classified by the Food and Drug Administration

These tests determine whether a particular gene is expressed. The other tests determine the sequence variability of a particular gene.

A home-brew test offered by a commercial clinical laboratory

For patients with an Asian ancestry

Abbreviations: EGFR = Epidermal growth factor receptor; HER2/NEU = v-erb-b2 erythroblastic leukemia viral oncogene homolog 2; CCR-5 = Chemokine C-C motif receptor; HIV=human immunodeficiency virus; BCR = breakpoint cluster region; ABL = Abelson; HLA = Human leukocyte antigen; CYP2C9 = Cytochrome P450 2C9; VKORC1 = Vitamin K epoxide reductase complex subunit 1; CYP2D6 = Cytochrome P450 2D6, TPMT = Thiopurine S-methyltransferase; UGT1A1 = Uridine diphosphate glucuronosyltransferase 1A1; c-KIT = v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog; CYP2C19 = Cytochrome P450 2C19; DPD deficiency = dihydropyrimidine dehydrogenase; G6PD = glucose-6-phosphate dehydrogenase; NAT = N-acetyltransferase; PML/PAR = Retinoic acid receptor; PCR = polymerase chain reaction; 6-MP = 6-mercaptopurine; 5-FU: 5-fluorouracil.