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Factor XIII V34L Gene Mutation
Principle
Factor XIII is a transglutaminase that plays a crucial role in the coagulation cascade by cross-linking fibrin and stabilizing the clot during the final stages of clot formation.
Altered levels of Factor XIII have been associated with various conditions: low levels in Crohn’s disease and ulcerative colitis, and elevated levels in Alzheimer’s disease.
The V34L polymorphism of the Factor XIII gene has been linked to myocardial infarction (conferring a protective effect) and may influence the disease progression in patients with venous leg ulcers.
Specimen Requirements
Specimen
Whole blood
Minimum Volume
10 mL total (two 5 mL lavender-top EDTA tubes)
Handling
Deliver to the laboratory within 72 hours at room temperature
Unacceptable Specimens
- Clotted samples
- Specimens not collected in EDTA tubes
- Frozen specimens
Method
Polymerase chain reaction (PCR) with reverse hybridization.
Normal Range
Reported as:
- Normal: GG
- Heterozygous Mutated: GT
- Homozygous Mutated: TT
Turnaround Time
10 business days
References
- Juhan-Vague, I. Thromb Haemost 1999;81:463.
- Anwar, R et al. Blood 1999;93:897-905.