MTHFR Mutation Analysis with Interpretation
Label Mnemonic: MTHFR
Epic Lab Code: LAB8464
Downtime Form: A-1a Molecular Pathology/Diagnostics Laboratory Requisition
Molecular Pathology
6004 BT GH
384-9568
Specimen(s):
Whole Blood
Collection Medium:
or
Pink top tube 6 mL (K2-EDTA) Lavender top tube 4 mL (EDTA)
Minimum:
Collect 3 mL blood in ONE Pink top tube (EDTA) or TWO Lavender top tubes. 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