Prothrombin (F2) Gene Mutation (G20210A) - Machaon Diagnostics
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Prothrombin (F2) Gene Mutation (G20210A)

Justification

The relative risk for deep vein thrombosis in adults heterozygous for the 20210G>A variant is increased two- to fivefold. The relative risk for thrombosis for children is increased three- to fourfold. The variant may also increase the risk for pregnancy loss.

STAT: < 48 hours (M-F)

RT-PCR

Draw Tube: Purple Top

Sample Type: EDTA Whole Blood

Draw Kits Available

Specimen Requirements

Sample Type Volume Required Minimum Volume Stability
PREFERRED EDTA Whole Blood 3mL 1mL Room Temp.: 1 month
Refrigerated: 1 month
ALTERNATIVE Cheek swab 2 swab - Room Temp.: 1 month
Refrigerated: 1 month
REJECTION CRITERIA Sample contamination; sample compromised
SPECIAL INSTRUCTIONS -

General Information

METHODOLOGY RT-PCR
STAT TAT < 48 hours (M-F)
STAT TAT Performance > 90% of results released in 48 hours
ROUTINE TAT < 3 days
ALTERNATIVE NAMES G20210A, c.*97G>A, 20210G>A, F2 mutation, FII mutation
DESCRIPTION This test detects the 20210G>A variant (c.*97G>A) using real-time PCR. This test can detect whether a patient is normal or has one 20210G>A allele (i.e., heterozygous) or two alleles (i.e., homozygous).
LIMITATIONS Rare variants within the primer binding sites could lead to allele drop-out and a potential false negative result.
NORMAL RANGE No mutation found
ASSOCIATED TESTING -
REFERENCES

1. Gohil R, Peck G, Sharma P. The genetics of venous thromboembolism. A meta-analysis involving approximately 120,000 cases and 180,000 controls. Thromb Haemost. 2009;102:360–70.

2. Lijfering WM, et al. Selective testing for thrombophilia in patients with first venous thrombosis: results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relatives. Blood. 2009;113:5314–22.

3. Rosendaal FR, Reitsma PH. Genetics of venous thrombosis. J Thromb Haemost. 2009;7 Suppl 1:301–4.
SAMPLE REPORT Upon request
NEW YORK STATE APPROVED No

Test Codes

ORDER CODE P3105
CPT CODE 81240
LOINC CODE 24476-4