Alias/Synonyms:
MTHFR, Mutation, C677T, Genotype, Genetic, Gene, Molecular, MTHFR deficiency, methionine, hyperhomocysteinemia
Additional Information:
This test detects the MTHFR variant c.665C>T; p. Ala222Val (legacy name C677T).
Epic order code: LAB739
MTHFR Polymorphism is often ordered with Prothrombin (Factor II) G20210A Mutation (LAB834) and Factor V Leiden (LAB346)
Specimen Requirements:
Preferred Specimen Type: Whole Blood
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient 24 Hours/ Refrigerated 1 Week/ Frozen Unacceptable
Transport to the laboratory as soon as possible for testing.
Unacceptable conditions:
Clotted or frozen blood.
Blood with a collection date greater than 7 days prior to processing.
Less than the minimum volume requirements for blood collection.
Use:
Preemptive or reactive genotyping of patients.
To provide an assessment for genes associated with thrombotic risk.
It is recommended that the results and subsequent options from these complex genetic tests be discussed with patients by trained genetics professional.
Methodology:
Real Time Polymerase Chain Reaction (RT-PCR)
Reported:
7-10 business days
Reference Values:
Negative
Test Classification:
Laboratory Developed Test