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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.

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.

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