MTHFR Mutation Analysis with Interpretation
| Label Mnemonic: | MTHFR |
| Epic code: | LAB8464 |
| Downtime form: | A-1a Doctor/Provider Orders - Pathology Molecular |
Molecular Pathology
6240 RCP
384-9568
6240 RCP
384-9568
Specimen(s):
Whole Blood
Collection Medium:
 |
| Pink top tube 6 mL (K2-EDTA) |
Minimum:
Collect 3 mL blood in ONE Pink top tube (EDTA) tube. Testing requires a dedicated tube.
Rejection Criteria:
Serum, plasma, frozen whole blood, clotted blood, and severely
hemolyzed specimens.
Turn Around
Time:
2-7 days (upon receipt in laboratory)
Reference Range:
Normal
Comments:
Studies indicate the MTHFR variants are not associated with an
increased risk for venous thromboembollism independent of plasma
homocysteine concentrations which should be measured before requesting
molecular genetic testing.
Test
Limitations:
Only the two MTHFR gene mutations (c.665C>T and c.1286A>C) will be
targeted. Diagnostic errors can occur due to rare sequence variations.
Methodology:
Massively parallel Next Generation DNA sequencing by synthesis,
semiconductor technology, Ion Personal Genomics Machine
CPT Code:
81291