Methylenetetrahydrofolate reductase (MTHFR) mutation

Test code

GMR

Specimen

3 mL EDTA blood or 2 buccal swabs

Container

Purple-top (EDTA) tube

Special instructions

Nil

Collection

Nil

Causes for rejection

Frozen specimen; quantity not sufficient for analysis; wet buccal swab; nonsterile container

Description of analysis

DNA sequence analysis of the genes designed to detect a total of 2 major mutations in 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

Limitation

This assay acts as one of the references in diagnosis of hyperhomocysteinemia as it only detects the C677T and A1298C mutations in the MTHFR gene. Clinical findings and other studies, such as serum homocysteine levels, should also be considered. Prenatal testing is not available

Storage instruction

Specimen should be kept at room temperature

Reference

Nil

QUESTIONS?

+852 2147 4088