Test Overview
Test Methodology

Direct mutation analysis using PCR amplification, signal generation, and release by cleavage of sequence-specific alleles.

Test Usage

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.

Reference Range *

Negative

Test Details
Days Set Up
Monday - Friday
Analytic Time

3 - 5 days

Soft Order Code
MMTHF
MiChart Code
MTHFR C677T Mutation Analysis, B
Synonyms
  • C677T MTHFR Mutation
  • Methylenetetrahydrofolate Reductase by DNA Analysis
  • MTHFR Mutation Detection
  • MTHFR
  • MTHFRS
  • Homocysteine Mutation Detection
  • A1298C MTHFR Mutation
  • MLABEL
  • METHYLENETETRAHYDROFOLATE
  • MTHINV
  • Methylenetetrahydrofolate Reductase Mutation
Laboratory
Sendout
Reference Laboratory
Mayo MTHFR (81648)
Section
Special Testing
Specimen Requirements
Collection Instructions

Collect blood in a yellow top (ACD solution B) (preferred) or lavender top (EDTA) tube. Send intact whole blood specimen at room temperature (preferred) or refrigerated.

Contraindications
In the absence of specific information regarding advances in the knowledge of mutation characteristics for a particular disorder, the current literature indicates that genetic tests for inherited disease need only be conducted once per lifetime.
Normal Volume
5 mL ACD (solution B) whole blood
Minimum Volume
1 mL ACD (solution B) whole blood
Additional Information

Testing for the A1298C mutation is also available: specify MTHFR A1298C Mutation (Mayo MTHAC) or MTHFR A1298C and C677T Mutations (Mayo MTHP). Test sent to Mayo Medical Laboratories.

Billing
CPT Code
81291
Fee Code
AA481
LOINC
21709-1
NY State Approved
No