P450-CYP2C9+VKORC1 Polymorphism Analysis (Warfarin Genotyping)
The human cytochrome CYP2C9 gene spans a region of approximately 55 kilobases and is composed of nine exons (De Morais et al., 1993). The gene resides on chromosome 10 (q24) and is clustered among other closely related 2C-genes in the order: Cen-2C18-2C19-2C9-2C8-Tel.
The CYP2C family is responsible for metabolizing a variety of exogenous and endogenous substrates and approximately 20% of currently prescribed drugs. In particular, 2C9 has a central role in the phase 1 metabolism of several medications with a narrow therapeutic index (NTI), the best characterized of which include warfarin and phenytoin. The 2C9 variant nomenclature adopted follows that outlined by the Human Cytochrome P450 (CYP) Allele Nomenclature Committee (http://www.imm.ki.se/CYPalleles/). Variants are accordingly classified as *2 to *12.
The human VKORC1 gene, encoding Vitamin K Epoxide Reductase (VKOR), spans a region of approximately 11 kilobases on chromosome 16 (p11.2) and is composed of 3 exons. VKOR is involved in the recycling of vitamin K from its oxidized to reduced form and is the substrate for warfarin in vivo.
The test screens for the five most common variants of P450-2C9 seen across various ethnic groups (2C9*2–2C9*6), six VKORC1 coding mutations which confer a high-resistance phenotype, and the maintenance-dose defining warfarin resistance polymorphism (-1639 G to A).
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Two 5-10 ml tubes of anticoagulated blood. The preferred anticoagulant is EDTA (lavendar top tubes), ACD (yellow top) tubes are also accepted.
Shipping: Send at room temperature.
Turnaround Time: 24-48 hours
CPT Codes: 83891, 83892, 83894, 83898, 83900, 83901x5, 83912, 83914x2
Requisition and Consent Form: Warfarin Requisition and Consent [PDF]