Factor V, R2 Mutation Detection by PCR
Also known as: F5R2 MUTAT
Use
The test is used to determine thrombotic risk in individuals known to be factor V Leiden heterozygotes. The presence of the R2 polymorphism in factor V Leiden heterozygotes increases the risk of venous thrombosis 3 to 4 fold further than the increased risk from factor V Leiden alone. Heterozygous factor V R2 may be associated with a very mild increase in activated protein C (APC) resistance.
Special Instructions
The test is performed by a non-ARUP Laboratory, Esoterix Coagulation. It has not been cleared or approved by the FDA. Genetic counseling is recommended if the mutation is present to obtain additional information on inheritance.
Limitations
This test detects only the factor V R2 polymorphism at nucleotide 4070 and does not measure genetic abnormalities elsewhere in the genome. Inaccurate results can occur due to rare polymorphisms in primer binding sites and specimen misidentification. Genetic testing by PCR provides high sensitivity and specificity.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 41103-3
- 49549-9
- 35474-6
- 77202-0
Result Turnaround Time
5-12 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
0.5 mL
Container
Lavender (EDTA). Also acceptable: Yellow (ACD solution A or B).
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 1 week |
| Refrigerated | 1 week |
| Frozen | Unacceptable |