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.
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Indications
- Diabetes, bronze skin, liver disease, cardiomyopathy, iron storage disease
- Family history of hereditary hemochromatosis.
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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.
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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.
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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.
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Turnaround Time
2 weeks
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Cost
Please call 866-450-4198 for current pricing.
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CPT Codes
88391, 83894, 83898, 83912, 83892
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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.
Ship to
Cytogenetics and Molecular Genetics Laboratories
3333 Burnet Avenue NRB 1042
Cincinnati, OH 45229
513-636-4474
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Results
Results will be reported to the referring physician, nurse, or genetic counselor as specified on the requisition form.
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Contact Us
For additional inquiries, contact us:
Phone 513-636-4474
Fax 513-636-4373
Email moleculargenetics@cchmc.org
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