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Institute of Metabolic Disease at Baylor Research Institute
Methylenetetrahydrofolate reductase C677T mutation analysis

Methylenetetrahydrofolate reductase (MTHFR) mutation (677CT) may be associated with elevated blood levels of homocysteine. Homozygosity (TT genotype) for this mutation has been reported to be associated with an increased risk for arterial and venous thrombosis, and an increased risk for obstetrical complications (eg, preeclampsia, abruptio placentae, fetal growth retardation, and stillbirth). Homozygosity (TT genotype) for this mutation combined with low dietary folate intake or medications that interfere with folate metabolism can result in an increased risk for hyperhomocysteinemia.

Department: Neuropharmacology
Methodology: PCR and gel electrophoresis

Sample:
Whole Blood - 0.5 mL of whole blood

Shipping and Handling:
Transport whole blood sample at room temperature using a guaranteed overnight courier.

Special Notes: This research test must be coordinated through the Neuropharmacology Laboratory Director. Most research tests are performed on a batch basis; the laboratory will not perform single sample testing. Contact the Neuropharmacology Laboratory Director for more information.

Turnaround Time and Test Cost: Please contact the Neuropharmacology Laboratory Director

Related tests: Homocysteine-Research, Folate (total),Vitamin B12, Vitamin B6