Hereditary Hemochromatosis DNA Mutation Analysis
Also known as: HLA-H, HFE, Hemochrom HFE Gene Analysis, Blood, Hemochromatosis Hereditary DNA
Use
Hereditary Hemochromatosis is an autosomal recessive disease characterized by abnormal iron accumulation in the body. The assay detects two of the most common HFE gene mutations (C282Y and H63D), which are associated with hereditary hemochromatosis. Although presence of homozygous or compound heterozygous variants may support a clinical diagnosis, penetrance is variable and clinical evaluation with iron studies remains essential.
Special Instructions
Not provided.
Limitations
This test was developed and its analytical performance characteristics determined by Quest Diagnostics. It has not been cleared or approved by FDA but was validated under CLIA regulations. Detects only the C282Y and H63D mutations; additional mutations may be present and not detected by this assay. A negative result does not rule out hereditary hemochromatosis.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
8-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
3 mL
Container
Lavender (EDTA) or yellow (ACD Solution A/B) tube
Collection Instructions
Whole blood collected in an EDTA (lavender), sodium heparin (green-top), or ACD solution A/B (yellow-top) tube is also acceptable.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 8 days |
| Refrigerated | 8 days |
| Frozen | Unacceptable |