Hereditary Hemochromatosis DNA Mutation Analysis
Test Summary
Hereditary Hemochromatosis is an autosomal recessive disease that results in an abnormal build-up of iron in the body. The C282Y and H63D are among the most common mutations in patients with hereditary hemochromatosis. Penetrance of the mutations (phenotypic disease), including by individuals with compound heterozygous mutations, is variable.
Aliases
- N/A
Specimen Collection
Special Instructions
N/A
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL
Instructions
Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
Patient Preparation
N/A
Storage
N/A
Transport Temperature
Room temperature
Specimen Stability
- Room temperature: 8 days
- Refrigerated: 8 days
- Frozen: Unacceptable
Limitations
N/A
Other Acceptable Specimens
Whole blood collected in sodium heparin (green-top) tube
Unacceptable Specimens
N/A
Order Code
HHEMO
EPIC (Premier) Code
LAB3821
Includes
N/A
CPT Code
- 81256
Billing Code
- 670000
CPT Statement
Methodology
Fluorescent Restriction Fragment Length Polymorphism • Polymerase Chain Reaction (PCR)
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Physician Attestation of Informed Consent
N/A
Testing Laboratory
Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano CA, 92675
33608 Ortega Highway
San Juan Capistrano CA, 92675
Department
Reference Testing
Reference Range
See Laboratory Report
Setup Schedule / Expected Turnaround Time
Monday - Saturday morning; Report available: 8 days
Specimen Collection
Special Instructions
N/A
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL
Instructions
Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
Patient Preparation
N/A
Storage
N/A
Transport Temperature
Room temperature
Specimen Stability
- Room temperature: 8 days
- Refrigerated: 8 days
- Frozen: Unacceptable
Limitations
N/A
Other Acceptable Specimens
Whole blood collected in sodium heparin (green-top) tube
Unacceptable Specimens
N/A
Result Information
Methodology
Fluorescent Restriction Fragment Length Polymorphism • Polymerase Chain Reaction (PCR)
Testing Laboratory
N/A
Reference Range
See Laboratory Report
Setup Schedule / Expected Turnaround Time
Monday - Saturday morning; Report available: 8 days