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Test Mnemonic MTHAC 5,10-Methylenetetrahydrofolate Reductase A1298C, Mutation, Blood

Reporting Name

MTHFR A1298C Mutation Analysis, B

Useful For

Direct mutation analysis for the MTHFR A1298C 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

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Whole blood


Advisory Information


Can be combined with other molecular coagulation tests:

-F5DNA / Factor V Leiden (R506Q) Mutation, Blood

-PTNT / Prothrombin G20210A Mutation, Blood

-MTHFR / 5,10-Methylenetetrahydrofolate Reductase C677T, Mutation, Blood

-MTHP / 5,10-Methylenetetrahydrofolate Reductase C677T and A1298C Mutations, Blood



Specimen Required


Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Lavender top (EDTA) or blue top (sodium citrate)

Specimen Volume: Full tube

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.


Specimen Minimum Volume

1 mL blood in a 3 mL ACD tube

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Ambient (preferred) 7 days
  Frozen  14 days
  Refrigerated  14 days

Reference Values

Negative

Day(s) and Time(s) Performed

Monday through Friday; 12 p.m.

CPT Code Information

81291-MTHFR (5,10-methylenetetrahydrofolate reductase) (eg, hereditary hypercoagulability) gene analysis, common variants (eg, 677T, 1298C)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MTHAC MTHFR A1298C Mutation Analysis, B In Process

 

Result ID Test Result Name Result LOINC Value
34701 MTHFR A1298C Mutation Analysis, B 28060-2
34702 MTHAC Interpretation 69047-9
34703 MTHAC Reviewed By No LOINC Needed

Method Name

Direct Mutation Analysis

Test Classification

This test has been modified from the manufacturer's instructions. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

Forms

1. Coagulation Patient Information (T675) in Special Instructions

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.