MTHFR Mutation Analysis with Interpretation
| Label Mnemonic: | MTHFR |
| Epic code: | LAB8464 |
| Order form: | Molecular Genetics General Consult Requisition |
| Supply order: | Supply Order Form |
| Billing: | Billing Policies |
| CPT code: | 81291 |
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
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
Sample
Storage:
Refrigerate.
Transport
Instructions:
Ship refrigerated.
CPT Code:
81291