Test Code LAB833 Hemochromatosis HFE Gene Analysis, Blood
Additional Codes
LAB833
Performing Laboratory
Barnes-Jewish Hospital Molecular Diagnostic Laboratory
Methodology
This assay is based on real-time PCR Amplification and detection of the p.C282Y and p.H63D SNPs in DNA extracted from peripheral blood samples. HFE genotyping is performed on the Applied biosystems 7500 Fast Real-Time PCR System utilizing commercially available Predesigned TaqMan® SNP Genotyping Assays.
Specimen Requirements
Call Barnes-Jewish Hospital Molecular Diagnostics Laboratory at 314-454-8685 for collection instructions.
Testing Algorithm
Form
Molecular Diagnostics Requisition
Specimen Type: Whole blood
Container/Tube: Lavender-top (EDTA)
Specimen Volume: 1 -2 mL
Specimen Minimum Volume: 0.5 mL
Collection Instructions: Invert several times to mix blood. Clotted blood is not acceptable.
Additional Information: Specimen cannot be frozen.
Day(s) Test Set Up
Thursday
Turnaround Time:
STAT: Director approval required
Routine: 3 to 7 business days
Reference Values
An interpretive report will be provided.
Test Classifications and CPT Coding
81256-HFE (hemochromatosis) (eg, hereditary hemochromatosis) gene analysis, common variants (eg, C282Y, H63D)
Additional Information
For BJH Laboratory Use Only
Analyte Stability:
Blood is stable 24 hours at ambient temperature, up to 15 days refrigerated.
Laboratory Processing Instructions:
Test performed in BJH Molecular Diagnostics.
Specimen Transport Temperature
Specimen should be sent at Ambient temperature or kept refrigerated
Specimen cannot be frozen