Test Catalog

Test ID: MTHFR    
5,10-Methylenetetrahydrofolate Reductase C677T, Mutation, Blood

Useful For Suggests clinical disorders or settings where the test may be helpful

Direct mutation analysis for the MTHFR C677T mutation should be reserved for patients with coronary artery disease, acute myocardial infarction, peripheral vascular artery disease, stroke, or venous thromboembolism who have increased basal homocysteine levels or an abnormal methionine-load test.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Direct Mutation Analysis

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

MTHFR C677T Mutation Analysis, B

Aliases Lists additional common names for a test, as an aid in searching

5,10 Methylenetetrahydrofolate Reductase, C677T point mutation
A223V Gene Mutation, Methylenetetrahydrofolate reductase
C677T Point Mutation
Methylenetetrahydrofolate Reductase 5,10
MTHFR A223V Gene Mutation
MTHFR Deficiency thermolabile type
reductase C677T point mutation
A223V Gene Mutation, MTHFR Deficiency