Name: Prothrombin Gene Mutation by PCR
Test Name: Prothrombin Gene Mutation by PCR
Health Link Test Code: XPGM
LIS Test Code: PTPCR
CPT Code(s): 81240
Prothrombin (G20210A) gene mutation analysis by real-time PCR amplification and melting point analysis
Methodology: Real-Time PCR followed by Melting Point Analysis
Detect presence of Prothrombin G20210A allele, which has been associated with elevated plasma prothrombin levels and moderately increased risk of first venous thrombotic events. Usually ordered in conjunction with Factor V Gene Mutation Analysis. The mutation of the prothrombin G20210A gene in the heterozygous state can confer an approximately 3 fold increased life-long risk for venous thrombosis. Due to low frequency, the G20210A mutation in the homozygous state and the additive effects of the G20210A mutation in combination with the Factor V mutation remains undetermined. Usually ordered with Prothrombin mutation is a test for Factor V Leiden mutation, which has been used to confirm the diagnosis of resistance to APC.
Days Performed: Once a week.
In-Lab Turnaround Time: 10 days.
Collection Container: Lavender top
Also Acceptable: Light blue top (3.2% NaCitrate)
For UWMF - ordering source must fill out the UWMF Genetic Lab Request prior to specimen collection.
Collection Volume: 4 mL
Pediatric Collection Volume: 2 mL
Sample Analyzed: Whole Blood
Testing Volume: 2 mL
Pediatric Testing Volume: 1.2 mL
Transport specimen to Laboratory immediately. Refrigerate specimen if not delivered immediately. Transport on coolant pack if coming from clinic location; avoid freezing. Specimen must be received within 7 days of collection date.
A written interpretive report is provided by the laboratory.
This test was performed using a modification of an FDA approved method. The performance characteristics of this test were determined by the UWHC Clinical Laboratories and meet the standards for clinical testing.
A professional fee is associated with this test.