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

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

Yes

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 and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

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

Direct Mutation Analysis

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

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