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