|Sunquest Code:||MTHFRD||CoPath Code:||MTHFRMA|
|Epic Code:||LAB4629||Epic Name:||MTHFR Genotype|
|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.|
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.
|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)|
|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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