Use

This test is intended for individuals with a clinical or suspected diagnosis of severe MTHFR deficiency. It is applicable for those with biochemical features such as hyperhomocysteinemia, homocystinuria, low/normal plasma methionine levels, and elevated plasma S-adenosylhomocysteine and cystathionine. Additionally, it's relevant for reproductive partners of individuals known to carry a pathogenic variant in the MTHFR gene.