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Test Code LAB833 Hemochromatosis HFE Gene Analysis, Blood

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.

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.

Specimen Transport Temperature

Specimen should be sent at Ambient temperature or kept refrigerated

Specimen cannot be frozen

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.

Testing Algorithm

See Hereditary Hemochromatosis 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.

Test Classifications and CPT Coding

81256-HFE (hemochromatosis) (eg, hereditary hemochromatosis) gene analysis, common variants (eg, C282Y, H63D)