Thrombophilia profile (FII + FV + MTHFR)

Test code

GTP

Specimen

3 mL EDTA blood or 2 buccal swabs

Container

Purple-top (EDTA) tube

Special instructions

Nil

Collection

Nil

Causes for rejection

Quantity not sufficient for analysis; wet buccal swab; non-sterile container

Description of analysis

DNA sequence analysis of three genes designed to detect a total of 4 major mutations in Factor II (FII), Factor V (FV) and Methylenetetrahydrofolate Reductase (MTHFR)

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

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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