Molecular Genetics Laboratory Services

Hereditary Hemochromatosis

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About the Disorder | Indications | Specimen l Testing Methodology l Sensitivity l Turnaround Time l Cost l CPT Codes l Shipping l Results l Contact Us

About the Disorder

Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism. Accumulation of excess iron results in damage to multiple organs including the liver, pancreas, heart, joints and the brain. Individuals may develop cirrhosis of the liver, liver tumors, diabetes, arthritis and / or heart disease. Two of the most common defects in the gene for hereditary hemochromatosis (HFE) are the C282Y and H63D mutations. The carrier frequency of HH is about 1 in 10 for individuals of Northern European descent.

Indications

Diabetes, bronze skin, liver disease, cardiomyopathy, iron storage disease
Family history of hereditary hemochromatosis.

Specimen

At least 2ml whole blood in purple top (EDTA) tube. Label tube with patient's name, birth date and date of collection. Phlebotomist must initial tube to verify patient's identity.

Testing Methodology

DNA is isolated from peripheral blood and is analyzed for two (2) mutations in the HFE gene, which have been associated with hereditary hemochromatosis. The analysis is performed by restriction analysis of PCR-amplified segments of the HFE gene: C282Y mutation is detected by restriction with Rsa1, and the H63D mutation is detected with restriction Mbo1.

Sensitivity

The most common mutation, C282Y (Cys282Tyr) is found in the homozygous state in 89-90% of patients with typical hemochromatosis. The homozygous C282Y genotype confers an approximately 50% risk of abnormal serum iron binding. A second mutation, H63D (His63Asp) has also been associated with hemochromatosis. Less than 2 percent (<2%) of compound heterozygotes for C282Y/H63D also have signs of hemochromatosis, and account for approximately 5% of all cases.

Turnaround Time

1 week

Cost

Please call 866-450-4198 for current pricing.

CPT Codes

88391, 83894, 83898, 83912, 83892

Shipping Instructions

Please enclose test requisition with sample. All information must be completed before sample can be processed. Place samples in Styrofoam mailer and ship at room temperature by overnight Federal Express to arrive Monday through Friday.