Factor V (FV) (Leiden) mutation

Test code

GFV

Specimen

3 mL EDTA blood or 2 buccal swabs

Container

Purple-top (EDTA) tube

Special instructions

Nil

Collection

Nil

Causes for rejection

Frozen specimen; hemolysis; clotted blood specimen; quantity not sufficient for analysis

Description of analysis

DNA sequence analysis of the gene designed to detect the mutation in Factor V (FV)

Test methodology

DNA is extracted from sample and subjected to polymerase chain reaction (PCR) amplification. The amplified product is directly sequenced using fluorescent dye-labeled terminator chemistry. Genetic variants are detected by comparison with wild-type gene sequences

Limitation

This test only detects the factor V (Leiden) mutation. Increased risk of thrombosis can be caused by a variety of genetic and non-genetic factors. Other factors are not screened in this test

Storage instruction

Specimen should be kept at room temperature

Reference

American college of medical genetics guidelines for clinical genetics laboratories (2006)

QUESTIONS?

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