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β-Fibrinogen G455A Mutation
Principle
Fibrinogen (Factor I) is a glycoprotein synthesized in the liver that plays a central role in the coagulation cascade, converting to fibrin in the presence of thrombin. Elevated fibrinogen levels have been linked to an increased risk of atherosclerosis, deep vein thrombosis, and other cardiovascular diseases.
Fibrinogen consists of three pairs of polypeptide chains (α, β, γ), each encoded by separate genes located on chromosome 4. A G → A polymorphism at position -455 in the promoter region of the β-fibrinogen gene has been associated with elevated fibrinogen levels, particularly in AA homozygous carriers.
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: G/G
- Heterozygous Mutated: G/A
- Homozygous Mutated: A/A
Turnaround Time
10 business days
References
- van’t Hooft F, et al. Arteriosler Thromb Vasc Biol 1999;19:3063-3070.