MTHFR THFR (Methylenetetrahydrofolate Reductase)

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MTHFR (Methylenetetrahydrofolate Reductase)
** Also Orderable as part of the Thrombophilia panel along with Factor V Ledien and Prothrombin mutations. 
Gene Symbol:  MTHFR         
Chromosomal Locus: 1p36.22&
Protein:   Methylenetetrahydrofolate Reductase   
Pseudonyms: thrombosis, hyperhomocystinuria, DVT, Neural Tube defects, Spina Bifida
TURNAROUND TIME:     5 business days
TESTING METHODOLOGY:Detection of apoint mutation of a C677T  by analysis on the Verigene system (FDA approved).
  • Collect:Prefer two 5ml whole blood EDTA (lavender top) tube.  
  • Min. Collection: 0.7 ml whole blood EDTA.
  • Transport: blood EDTA at Room Temp shipped next day air (No Saturday delivery; store specimen refrigerated and ship Monday). 
  • Stability: Ambient: up to 7 days; Refrigerated: 2 weeks. Frozen: unacceptable
  • Unacceptable Conditions: Serum. Frozen or severely hemolyzed blood. Clotted blood.         
  • Prenatal testing:Direct: 5ml direct unspun amniotic fluid or 15mg CVS tissue with a backup flask growing. Culture: confluent T25 flask.  Maternal blood sample is required for maternal cell contamination studies.
    Note: Counseling and informed consent are recommended for genetic testing. A consent form is available as a resource but not required.
Incidence: Homozygous in 5-10% of general Caucasian population.  Allele frequency in US population of 0.39.
Inheritance: Autosomal recessive. 
Disease Characteristics:  Homocystinuria, at risk for anencephaly (neural tube defects), spina bifida, and cleft palates, heart disease, stroke, high blood pressure, and schizophrenia.  May also show toxicity from medications that affect folate metabolism.
Clinical Sensitivity: 17% of coronary artery disease, 19% of arterial disease, and 11% of venous thromboembolisms
Indications for Use:
  • Hyperhomocysteinemia
  • History of venous thromboembolism, coronary artery disease or stroke, or pregnancy complications such as neural tube defects including spina bifida, stillbirths, or recurrent pregnancy loss
  • Individuals with other genetic risk factors (FV or Prothrombin mutations) or relatives of individuals with genetic risk factors.
Genetics Home Reference:
Genetics Home Reference – Spina Bifida:
OMIM – Neural Tube Defects: