Should assessing for a MTHFR mutation be part of the thrombophilia evaluation in a patient presenting with a thrombus?
Answer from: at Academic Institution
MTHFR mutation testing is of very little utility, given that the functional readout of MTHFR dysfunction is homocystinuria. The intake of the treatment of homocystinuria is folate, which is ubiquitous in the US diet. Thus, homocysteine levels would be adequate for testing, if such testing is indicat...
Sign in or Register to read more