Atherotech.com

HOW TO INTERPRET
THROMBOPHILIA RISK TEST RESULTS
Factor II Gene
(Prothrombin)
Mutation Absent. Normal or “Wild Type” Risk for thrombosis increased three to five times.
Mutation: 20210G>A
Mutant. Risk for thrombosis increased fifteen fold.
Individuals with one copy of the 20210G>A mutation (i.e., heterozygous) are at a two to four-fold relative increased risk for venous thrombosis compared to individuals with no mutation. Individuals with 2 copies of the 20210G>A mutation (i.e., homozygous) are at a greater than four-fold risk for venous thrombosis. Individuals carrying both the Factor V Leiden and 20210G>A mutations (i.e., a compound heterozygote) are twenty times more likely to have venous thrombosis than individuals without either mutation1.
Factor V Gene
(Leiden)
Mutation Absent. Normal or “Wild Type” Risk for thrombosis increased four to eight times. Mutation: 1691G>A
Mutant. Risk for thrombosis increased eighty fold. Individuals with one copy of the Factor V Leiden mutation (i.e., heterozygous) are at a four to eight fold relative risk for venous thrombosis compared to individuals with no mutation. Individuals with two copies of the Factor V Leiden mutation (i.e., homozygous mutant) are at an eighty-fold risk for venous thrombosis as compared to individuals with no mutation1.
MTHFR Gene
Analysis
Mutation Absent. Normal or “Wild Type” C/T Heterozygous: Elevated homocysteine.2 Mutation: 677C>T
MTHFR Gene
Analysis
Mutation Absent. Normal or “Wild Type” Mutation: 1298A>C
Homozygous mutants or compound heterozygous mutations 677C>T / 1298A>C are associated with risk for elevated levels of plasma homocysteine2.
References: 1. Grody WW, Griffin JH, Taylor AK, et al. Genet Med 2001; 3(2): 139-148.
2. Schneider JA, Rees DC, Liu Y-T et al. Am J Hum Genet 1998; 62: 1258-1260.
This test is approved by the U.S. Food and Drug Administration (FDA) (No. K093974). Atherotech is certified under CLIA-88 as a laboratory qualified to perform high complexity testing. Genetic tests detect only specified mutations. Other unknown or rare mutations may affect the testing, and, ultimately, the genotyping assessments made. Genetic tests should be used in conjunction with other relevant diagnostic information and the judgment of the patient’s healthcare providers. Physicians may recommend patients consider genetic counseling.
201 London Parkway | Birmingham, AL 35211 | 877-901-8510 | www.Atherotech.com HOW TO INTERPRET
Plavix® (CYP2C19) and Warfarin Sensitivity
(CYP2C9 & VKORC1) TEST RESULTS
Common Medications Metabolized by CYP2C19 and CYP2C9*
Psychotropics:
Anticonvulsants:
Oncology:
Psychotropics:
Hypoglycemics:
Oncology:
Cardiovascular:
Cardiovascular:
*Some medications listed above may be trademarked/registered products of pharmaceutical companies. Atherotech has no legal or financial relationship with these medications or their manufacturers.
The Warfarin Sensitivity test is approved by the U.S. Food and Drug Administration (FDA) (No. K073720). Plavix (CYP2C19): This test was validated and its performance characteristics determined by Atherotech in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Atherotech is certified under CLIA-88 as a laboratory qualified to perform high complexity testing. Genetic tests detect only specified mutations. Other unknown or rare mutations may affect the testing, and, ultimately, the genotyping assessments made. Genetic tests should be used in conjunction with other relevant diagnostic information and the judgment of the patient’s healthcare providers. Physicians may recommend patients consider genetic counseling.
201 London Parkway | Birmingham, AL 35211 | 877-901-8510 | www.Atherotech.com

Source: http://www.atherotech.com/Images/vapliterature/pdfs/ATHT_026_Genetics_Interpretive_Guidelines_RD2.pdf