MDL MTHFR DNA Var Anly (HHC)

Department: Molecular Diagnostics
Test Synonym(s): LAB3038, Methylenetetrahydrofolate Reductase, HHC, Hyperhomocysteinemia, MTHFR DNA Variant Analysis
Test Components: c.665C>T (c.677C>T) and c.1286A>C (c.1298A>C) mutations
CPT Codes: 81291
Methodology: Direct Detection of Variants c.665C>T (p.Ala222Val) and c.1286A>C (p.Glu429Ala) by using predesigned Taqman SNP Genotyping assays for c.665C>T (p.Ala222Val) and c.1286A>C (p.Glu429Ala); Laboratory Developed Test
Tube Type: Lavender top (EDTA)
Specimen: Blood
Alternate Specimen: Light blue top (Sodium Citrate)
Pediatric Requirements: 2 microtainers blood
Volume: 1 tube
Minimum Volume: 2 microtainers blood
Temperature: Room temperature or refrigerated
Stability: Room temperature: 2 days Refrigerated: 7 days
Reasons for Rejection: Client will be notified by Molecular Diagnostics Lab if specimen is rejected
Days Performed: Once a week - variable days
Times Performed: Batched
TAT: 10 days
Significance: Direct Detection of Variants c.665C>T and c.1286A>C
Special Instructions: Call or email the Molecular Diagnostics Laboratory at 615-343-8121 or moleculardiagnosticlab@vumc.org if assistance is needed for specimen submission or if the patient has received a transfusion in the prior 2 weeks or has a history of a stem cell transplant.

Click here to print the Molecular Diagnostics requisition.

---

Search Help

---

Search Options for the Test Directory:

1. Enter the test name in the Keyword search field.
Hint: You can also enter any part of the test name to expand the search.
(Example: you can type "west" or "sed" or "rate" to find Westergren Sedimentation Rate)

2. Enter the Vanderbilt Test Code, if known.

3. Choose one of the letter boxes to display a list of all test names and keywords starting with that letter.

If you are unable to find a test in our directory, please contact VPLS at
1-800-551-5227 or e-mail emily.k.thompson@vumc.org.