Genomics Services
 
 
MTHFR (Methylenetetrahydrofolate reductase)
MTHFR gene encodes for Methylenetetrahydrofolate reductase enzyme in humans. This enzyme is essential for the homeostasis and normal metabolism of intracellular folate. Reduced enzyme activity of MTHFR is a genetic risk factor for hyperhomocysteinemia. Point mutations in MTHFR gene is associated with high blood homocysteine, which has direct association with methorexate toxicity and arteriovascular disease. It follows autosomal recessive pattern of inheritance. MTHFR mutations analysis are also important in early onset of hyperhomocysteinemia.

Sample Type

Saliva Sample: Min 2ml Saliva Sample or blood in pre-designed kits provided by Xcelris Labs.
 
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Beta Thalassemia   |   Sickle Cell Anemia   |   MTHFR (Methylenetetrahydrofolate reductase)
Lactose Intolerance   |   Cystic Fibrosis (CFTR Mutation)
Biotinidase Deficiency   |   Hereditary Hemochromatosis
 
 
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