Hereditary Hemochromatosis, DNA Analysis
Also known as: Cirrhosis, Iron Overload, Iron Storage
Use
Aids in the identification of individuals at risk for symptoms of hemochromatosis due to variants in the HFE gene.
Special Instructions
Patients homozygous for c.845G>A (p.Cys282Tyr) are most likely to present clinical symptoms, though less than 10% develop significant iron overload with tissue and organ damage. Genetic coordinators are available for health care providers to discuss results and additional testing options via 1-800-345-GENE. Maintain specimen at room temperature or refrigerate; avoid freezing. The test has not been FDA cleared or approved.
Limitations
Results should be combined with clinical information for accurate interpretation. As with any laboratory test, there is a possibility of rare diagnostic errors. False positive or false negative results may arise from genetic variants, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or incorrect family relationship representation. Molecular-based testing is generally highly accurate but not immune to errors.
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 34519-9
- 34519-9
- 56850-1
Result Turnaround Time
5-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
7 mL
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube
Storage Instructions
Maintain specimen at room temperature or refrigerate.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container.