METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) THERMOLABILE VARIANT DNA MUTATION ANALYSIS

General Information

HLAB/HOL Code: MTHFR
UPHSM LIS Test #: 6737
Schedule:
Testing Time:
Testing Lab: Labcorp

Specimen Info
Only 1 specimen type required, unless otherwise specified

Volume: 7.0 (3.0) mL
Temperature: Ambient
Tube Type: Whole Blood EDTA (Preferred)
Collection Info:
Maintain specimen at room temperature or refrigerate.

Container:
Lavender-top (EDTA) tube or yellow-top (ACD) tube.

Methods

Polymerase chain reaction (PCR) and restriction enzyme analysis

Clinical Utilities

Use:
Follow-up evaluation in individuals with hyperhomocysteinemia; evaluation of patients with venous thrombosis

Limitations:
This assay detects only the C677T and A1298C mutations in the MTHFR gene. The diagnosis of hyperhomocysteinemia cannot rely on DNA testing alone but should take into consideration clinical findings and other studies, such as serum homocysteine levels. Prenatal testing is not available.

CPT Codes

81291

* The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding
is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Reference Range

Separate interpretive report sent