Molecular Diagnostics | Prothrombin Gene Mutation by PCR

UWHC Lab Test Details
Test NameProthrombin Gene Mutation by PCR
Test Code(s)XPGM
Approval RequiredTesting request needs faculty review. Contact the UWHC Test Referral Office at (608)262-6388 prior to collection.
CPT Code(s)81240
MethodologyReal-Time PCR followed by Melting Point Analysis
Clinical Information

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 (5) 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 (5) mutation remains undetermined. Usually ordered with Prothrombin mutation is a test for Factor V (5) Leiden mutation, which has been used to confirm the diagnosis of resistance to APC.

Days PerformedOnce a week.
In-Lab Turnaround Time10 days.
Stat In-Lab Turnaround TimeNot available stat.
Collection Requirements
SpecimenBlood
Collection Container
Collection ContainerLavender top
Also AcceptableLight blue top (3.2% NaCitrate)
Collection Instructions

A documented prior authorization will need to be present in Health Link before testing can be performed. 

The ordering source should consult the Genetic Testing at UW Health Clinical Laboratories document on U-Connect prior to ordering testing. Contact UWHC Referral office (608) 262-6388 for questions. 

Collection Volume4 mL
Pediatric Collection Volume2 mL
Specimen Processing Requirements
Stability
Stability Ambient

7 days

Stability Refrigerated

3 weeks

Stability Frozen

Not acceptable

Sample AnalyzedWhole Blood
Testing Volume2 mL
Pediatric Testing Volume1.2 mL
Specimen Processing

Do not centrifuge or freeze sample.

Outreach Specimen Processing

Refrigerate specimen. Do not freeze or centrifuge.

Specimen Transport

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.

Interpretation

A written interpretive report is provided by the laboratory.

Additional Information

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.

 

The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. The UWHC Clinical Laboratories is authorized under Clinical Laboratory Improvement Amendments (CLIA) to perform high-complexity testing.

 

A professional fee is associated with this test.(CPT Code G0452).