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MTHFR Genotype


Sunquest Code:MTHFRDCoPath Code:MTHFRMA
Epic Code:LAB4629Epic Name:MTHFR Genotype
Sunquest Code (non-Epic sites):MD  
Synonyms:Hyperhomocysteinemia; Methylenetetrahydrofolate Reductase Genotype; Molecular; MTHFR Mutation Analysis
Methodology:Amplification of DNA with restriction digest
CPT Code:81291, G0452 Professional fee (Pricing not available)
Turnaround Time:Results are reported within 7 days.
Special Instructions:

Test should be ordered through a genetic counselor, or medical geneticist. Patient must be counseled regarding this test: Counseling is available through the Molecular Diagnostics genetic counselor at 612-273-8948. 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
Optimal Volume:10 mL
Minimum Volume:5 mL
Container:Yellow (ACD, Solution A) tube available from laboratory. Alternate: 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.


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 Molecular Diagnostics  (UMMC-East Bank)


Interpretive

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.


Click HERE to Report test errors or omissions.