MTHFR Risk Factor for Hyperhomocysteinemia (MTHFR) Targeted Testing

AKA: Thrombophilia due to Thrombin Defect
Short Name: MTHFR Targeted

MTHFR Risk Factor for Hyperhomocysteinemia, also known as thrombophilia, is a disorder characterized by a defect in clot formation and is the result of an interaction between genetic, acquired, and predisposing factors. The most common manifestation is deep vein thrombosis. Deep vein thrombosis may progress to pulmonary embolism if the clot dislodges and travels to the lung. Thromboses of the cerebral or visceral veins and recurrent pregnancy loss are also possible manifestations of thrombophilia. The specific variants analyzed by the targeted test are the missense variants c.665C>T (p.Ala222Val) and c.1286A>C (p.Glu429Ala) on the MTHFR gene. These variants have been found in Amish populations.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 188050
MedGen: 463623