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Jun 14, 2017

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100

UWHC,UWMF,

Clinical Hub,Tools & Resources,UWHC Lab Test Directory,Molecular Diagnostics

Prothrombin Gene Mutation by PCR

Prothrombin Gene Mutation by PCR (XPGM) Molecular Diagnostics Lab Test

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

Test Component:

Prothrombin (G20210A) gene mutation analysis by real-time PCR amplification and melting point analysis

Methodology: Real-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 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.

Specimen: Blood

Collection Container: Lavender top

Also Acceptable: Light blue top (3.2% NaCitrate)

Collection Instructions:

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

Stability Ambient:

7 days

Stability Refridgerated:

3 weeks

Stability Frozen:

Not acceptable

Sample Analyzed: Whole Blood

Testing Volume: 2 mL

Pediatric Testing Volume: 1.2 mL

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.

 

A professional fee is associated with this test.