Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism resulting in excess iron storage in the liver, skin, pancreas and other organs. Early diagnosis and treatment is essential in avoiding clinical complications of diabetes, liver cancer, cardiomyopathy and cirrhosis of the liver. Molecular genetic confirmation of this condition is an integral part of the diagnostic process when evaluating a patient for hereditary hemochromatosis. HH is associated with the HFE gene located on chromosome 6p21. There are two well-described mutations, C282Y (n845G>A) and H63D (n187C>G), are known to be associated with hereditary hemochromatosis and are evaluated in this test.
Reasons for Referral
- Confirmation of a diagnosis in an individual with suspected hemochromatosis.
- Carrier testing for at-risk relatives.
A select region of the HFE gene is amplified from patient genomic DNA via polymerase chain reaction (PCR). The PCR product is analyzed by restriction fragment length polymorphism (RFLP) studies.
Turn Around Time
5 days or less
Specimen Requirements and Shipping/Handling
Blood: A single tube with 1-5 mL whole blood in EDTA (lavender top).
Saliva: To request a DNA Mouthwash Collection Kit please contact Genetics Center at (714)288-3500.
Store blood at 4°C until shipment. Ship at ambient temperature in an insulated container via overnight delivery within 96 hours of collection.
Send Specimen(s) to:
211. S Main Street
Orange, CA 92868
The interpretation of this test is based on the clinical and family information provided, and the current understanding of the molecular genetics of hereditary hemochromatosis.
CPT’s: 81256, G0452