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Test ID BLOD1378 5,10-Methylenetetrahydrofolate Reductase C677T and A1298C Mutations, Blood

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.

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

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

Reject Due To

Hemolysis

Mild OK; Gross OK

Lipemia

Mild OK; Gross OK

Icterus

NA

Other

Green-top (heparin) tube

Extracted DNA

Specimen Stability Information

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

Day(s) and Time(s) Performed

Monday through Friday; 12 p.m.

Analytic Time

3 days

Method Name

Direct Mutation Analysis

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81291

Reporting Name

MTHFR 2 Mutations Analysis, B

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.

Reference Values

Negative

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) in Special Instructions

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.
Sanford Laboratories - Fargo Additional Information:

SANFORD INTERFACE BUILD INFORMATION

Result Code Result Code Description
13305 Methylenetetrahydrofol Reduc Mut
13307 MTHFR Interpretation
13308 MTHFR Reviewed By:
17604 MTHFR A1298C Mutation Analysis, B
17605 MTHAC Interpretation
17606 MTHAC Reviewed By