Test Catalog

Test ID: MTHP    
5,10-Methylenetetrahydrofolate Reductase C677T and A1298C Mutations, Blood

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

Direct mutation analysis for the MTHFR C677T and/or A1298C mutations 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.

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Tests for C677T and A1298C mutations only.

Profile Information A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.

Test IDReporting NameAvailable SeparatelyAlways Performed
MTHFRMTHFR C677T Mutation Analysis, BYesYes
MTHACMTHFR A1298C Mutation Analysis, BYesYes

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

When this test is ordered, MTHFR and MTHAC mutations will always be performed together.

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 2 Mutations Analysis, B

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

5,10 Methylenetetrahydrofolate Reductase, A1298C point mutation
A223V Gene Mutation, Methylenetetrahydrofolate reductase
A223V Gene Mutation, MTHFR Deficient
A1298C Point Mutation
Methylenetetrahydrofolate Reductase 5,10
MTHFR A223V Gene Mutation
MTHFR Deficiency thermolabile type
Reductase A1298C point mutation
5,10 Methylenetetrahydrofolate Reductase, C677T point mutation
C677T Point Mutation
Reductase C677T point mutation