Factor II (FII) mutation

Test code

GFT

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 II (FII)

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 detects only the factor II mutation. Increased risk of thrombosis can be caused by a variety of genetic and non-genetic factors not screened for by this assay

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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