MTHFR Genotype

Abbrev Code:MTHFRD   
Order Code:LAB4629Order Name:MTHFR Genotype
Synonyms:Hyperhomocysteinemia; Methylenetetrahydrofolate Reductase Genotype; MTHFR Mutation Analysis; Molecular
Methodology:Amplification of DNA with restriction digest, detection by gel electrophoresis.
CPT Codes: 81291 x1, G0452 x1
Turnaround Time:Results are reported within 7 days.
Special Instructions:A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors.

Bone Marrow Transplant Patients: If a patient is the recipient of an allogeneic transplant, this test must be done on a pre-transplant sample. Contact the Molecular Diagnostics lab to see if a pre-transplant sample is available.
Associated Links:

Genetic Testing Consent Form

Collection Instructions

Specimen:Blood or bone marrow
Optimal Volume:10 mL
Minimum\Peds Volume:5 mL
Container:Yellow (ACD, Solution A) tube available from laboratory
Alternate Containers: Orocollect Dx Buccal Swabs, Purple (EDTA), Yellow (ACD, Solution B) tube available from laboratory
Causes for Rejection:Incorrect anticoagulant, frozen specimen, specimen more than 5 days old, or clotted.
Shared blood or bone marrow samples will not be accepted unless sent to Molecular first. Contamination will occur on automated hematology analyzers.   DNA extracted at non-CLIA certified (or equivalent) lab.

Processing and Shipping

Specimen Processing:Do not process whole blood. Store at room temperature.
Shipping Instructions:Ship whole blood at room temperature.
Test Performed at or Referral Lab UM Molecular Diagnostics (M)  (UMMC East Bank)


Reference Range:Results are reported as "present" or "absent" for the mutation. Heterozygosity or Homozygosity is also determined. See interpretive report.
Use:Determination of the presence of the thermolabile C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. This mutation results in MTHFR deficiency which can cause an accumulation of homocysteine in plasma (hyperhomocysteinemia). Hyperhomocysteinemia has been identified as an independent risk factor in the development of premature vascular disease.

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