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Test Code 0204669 5,10-Methylenetetrahydrofolate Reductase C677T, Mutation, Blood

Additional Codes

 

Mayo Test ID
MTHFR

 

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

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.

Method Name

Direct Mutation Analysis

Reporting Name

MTHFR C677T Mutation Analysis, B

Specimen Type

Whole blood


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

-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 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

Reject Due To

Hemolysis

Mild OK; Gross OK

Lipemia

Mild OK; Gross OK

Icterus

NA

Other

Green top (heparin) tube

Extracted DNA

 

Reference Values

Negative

Interpretation

The interpretive report will include specimen information, assay information, background information, and conclusions based on the test results (negative, heterozygous MTHFR C677T, homozygous MTHFR C677T).

Day(s) and Time(s) Performed

Monday through Friday; 12 p.m.

Analytic Time

3 days

Specimen Retention Time

Whole blood stored 2 weeks

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.

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
MTHFR MTHFR C677T Mutation Analysis, B In Process

 

Result ID Test Result Name Result LOINC Value
21827 Methylenetetrahydrofol Reduc Mut, B 21709-1
21828 MTHFR Interpretation 69049-5
21830 MTHFR Reviewed By 18771-6

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Coagulation Patient Information (T675) is available in Special Instructions