Test Code 885
Test Details
9p21 CVD Risk Genotype Test
This test identifies individuals who may be at an increased risk of premature CVD which allows for risk reclassification and more aggressive management of modifiable risk factors.
The 9p21 gene locus is on chromosome 9. Two 9p21 variants rs10757278 and rs1333049, found in about 40% of the population, have about a 1.5-2.0 fold increased risk of cardiovascular disease versus non-carriers in population studies.
Reference:
- McPherson R, Pertsemilidis A, Kavaslar N, et al. A common allele on chromosome 9 associated with coronary heart disease. Science. 2007;316:1488-1491.
Methodology
Real time polymerase chain reaction (PCR)
Patient Preparation
None
Preferred Specimen
1.0 mL whole blood collected in EDTA (Lavender Top)
Alternate Specimen
- Buccal swab
- Dried Blood collected on an AdvanceDx 100 card
Transport Temperature
Refrigerated (ship on frozen cold packs)
Stability
Refrigerated: 14 days
Lab Values
9p21 CVD Risk Genotype Test
rs10757278
- Optimal
- Genotype A/A
- Borderline
- Genotype A/G
- High Risk
- Genotype G/G
rs1333049
- Optimal
- Genotype G/G
- Borderline
- Genotype C/G
- High Risk
- Genotype C/C
Clinical Significance
9p21 CVD Risk Genotype Test
rs10757278
- Normal CVD Risk
- Genotype A/A
- 1.5-Fold Increased CVD Risk
- Genotype A/G
- 2.0-Fold Increased CVD Risk
- Genotype G/G
rs1333049
- Normal CVD Risk
- Genotype G/G
- 1.5-Fold Increased CVD Risk
- Genotype C/G
- 2.0-Fold Increased CVD Risk
- Genotype C/C
Treatment Options
9p21 CVD Risk Genotype Test
rs10757278
- Optimize All CVD Risk Factors
- Genotype A/G
- Genotype G/G
rs1333049
- Optimize All CVD Risk Factors
- Genotype C/G
- Genotype C/C