Factor XIII (F13A1) V34L Variant
Also known as: FAC 13 MUT
Use
This test assesses genetic risk for thrombosis by identifying the Factor XIII (F13A1), V34L sequence variant. The protective factor is associated with decreased risk for pulmonary embolism, deep vein thrombosis, and myocardial infarction in Caucasians. It may also provide slight protection against coronary artery disease. The variant's frequency varies across ethnic groups; in Caucasians, the allele frequency is 0.27.
Special Instructions
Counseling and informed consent are recommended for genetic testing. Consent forms are mandatory for New York clients. Transport whole blood in EDTA or ACD solution tubes and ensure refrigeration during transport.
Limitations
Only evaluates the V34L sequence variant in the F13A1 gene. Mutations in F13A1 or F13B genes, other than V34L, are not assessed. The protective effect of V34L is not established in non-Caucasians and may be influenced by other genetic factors not evaluated by this test. Diagnostic errors may occur due to rare sequence variations.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
2-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 3 days |
| Refrigerated | 1 week |
| Frozen | 1 month |