METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) THERMOLABILE VARIANT DNA MUTATION ANALYSIS
General Information
HLAB/HOL Code: MTHFR
UPHSM LIS Test #: 026737
Schedule:
Testing Time: 6-10 Days
Testing Lab: Labcorp
UPHSM LIS Test #: 026737
Schedule:
Testing Time: 6-10 Days
Testing Lab: Labcorp
Specimen Info
Only 1 specimen type required, unless otherwise specified
Volume: 7.0 mL
Temperature: Ambient
Tube Type: Whole blood or Labcorp buccal swab kit
Collection Info:
Minimum Volume: 3 mL whole blood or two buccal swabs
Container: Lavender-top (EDTA) tube, yellow-top (ACD) tube, or LabCorp buccal swab kit
Temperature: Ambient
Tube Type: Whole blood or Labcorp buccal swab kit
Collection Info:
Minimum Volume: 3 mL whole blood or two buccal swabs
Container: Lavender-top (EDTA) tube, yellow-top (ACD) tube, or LabCorp buccal swab kit
Specimen Acceptability
Cause for Rejection:
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab
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:
Variants Analyzed: c.665C>T (p. Ala222Val), legacy name: C677T; and c.1286A>C (p. Glu429Ala), legacy name: A1298C. Results must be combined with clinical information for the most accurate interpretation. Molecular-based testing is highly accurate, but as in any laboratory test, diagnostic errors may occur. False positive or false negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships.
Follow-up evaluation in individuals with hyperhomocysteinemia; evaluation of patients with venous thrombosis
Limitations:
Variants Analyzed: c.665C>T (p. Ala222Val), legacy name: C677T; and c.1286A>C (p. Glu429Ala), legacy name: A1298C. Results must be combined with clinical information for the most accurate interpretation. Molecular-based testing is highly accurate, but as in any laboratory test, diagnostic errors may occur. False positive or false negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships.
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
