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

Reporting Name

MTHFR 2 Mutations Analysis, B

Useful For

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.

Profile Information

Test ID Reporting Name Available Separately Always Performed
MTHFR MTHFR C677T Mutation Analysis, B Yes Yes
MTHAC MTHFR A1298C Mutation Analysis, B Yes Yes

Testing Algorithm

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

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Whole 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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MTHP MTHFR 2 Mutations Analysis, B In Process

 

Result ID Test Result Name Result LOINC Value
21827 Methylenetetrahydrofol Reduc Mut, B 21709-1
34701 MTHFR A1298C Mutation Analysis, B 28060-2
34702 MTHAC Interpretation 69047-9
21828 MTHFR Interpretation 69049-5
21830 MTHFR Reviewed By No LOINC Needed
34703 MTHAC Reviewed By No LOINC Needed

Method Name

Direct Mutation Analysis

Forms

1. Coagulation Patient Information Sheet (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.

Advisory Information

Can be combined with other molecular coagulation tests:

-MTHAC / 5,10-Methylenetetrahydrofolate Reductase A1298C, Mutation, Blood

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

-PTNT / Prothrombin G20210A Mutation, Blood

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

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.