UW Hospital and Clinics Lab Test Directory
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Prothrombin Gene Mutation by PCR
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| Test Code(s): |
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PTPCR / XPGM
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| CPT Code(s): |
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81240
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| Test Description: |
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Test Component: Prothrombin (G20210A) gene mutation analysis by real-time PCR amplification and melting point analysis
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| Methodology: |
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Real-Time PCR followed by Melting Point Analysis
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| Clinical Significance: |
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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.
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| Days Performed: |
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Once a week.
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| Turnaround Time: |
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Routine: 10 days.
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Specimen Requirements
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| Specimen: |
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Blood
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| Collection Instructions: |
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For UWMF - ordering source must fill out the UWMF Genetic Lab Request prior to specimen collection.
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| Collection Container: |
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Preferred: Lavender top
Also Acceptable:
Light blue top (3.2% NaCitrate)
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| Collection Volume: |
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Preferred: 4 mL
Pediatrics: 2 mL
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| Sample Analyzed: |
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Whole Blood
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| Volume Required: |
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Preferred: 2 mL
Pediatrics: 1.2 mL
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| Specimen Transport: |
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Transport specimen to Core Laboratory (B4/220) immediately. Refrigerate specimen if not delivered immediately. Transport on coolant pack if coming from outreach location; avoid freezing. Specimen must be received within 7 days of collection date.
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| Stability: |
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Ambient: 7 days
Refrigerated: 3 weeks
Frozen: Not acceptable
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Interpretation
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A written interpretive report is provided by the laboratory.
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| Additional Information: |
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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.
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Prothrombin PCR G20210A
Prothrombin G20210A
Prothrombin 20210
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