MTHFR (Methylenetetrahydrofolate Reductase) Gene Mutation Qualitative

The MTHFR Gene Mutation Qualitative test is a genetic test used to detect mutations in the MTHFR gene. This gene plays a crucial role in processing folate (vitamin B9) and regulating homocysteine levels in the blood.

Mutations in the MTHFR gene can lead to impaired folate metabolism and elevated homocysteine levels, which may be associated with an increased risk of cardiovascular diseases, blood clotting disorders, pregnancy complications, and certain neurological conditions.

This qualitative test identifies the presence or absence of common MTHFR gene mutations (such as C677T and A1298C).

The purpose of the MTHFR Gene Mutation Qualitative Test is to

• To detect mutations in the MTHFR gene
• To assess risk of elevated homocysteine levels
• To evaluate genetic factors related to cardiovascular and clotting disorders
• To investigate recurrent pregnancy loss or complications
• To support diagnosis of metabolic or genetic conditions