Hemochromatosis (HFE) Mutation Analysis
|Clinical info||Hemochromatosis is a common inherited disorder of iron metabolism seen in, but not limited to, people of European descent. The recessively inherited disorder has a carrier frequency of 1/8 individuals and affects 1/250. Premature death may be caused by complications of chronic liver disease, hepatocellular carcinoma, or heart failure if the disease goes untreated. Early detection and treatment with routine phlebotomy can prevent these severe complications. For this reason, testing for hemochromatosis molecular testing is recommended in individuals with abnormal iron studies. Elevations in serum iron levels, transferrin saturation, and ferritin are often noted in patients with hemochromatosis. The molecular diagnosis of hemochromatosis involves an assay to detect two mutations within the Hfe (HLA-H) gene. Both the C282Y and H63D mutations have been associated with the clinical diagnosis of hemochromatosis, with the C282Y genotype being more penetrant.|
|Indications||Molecular testing is useful to confirm the diagnosis for which there exists a simple and effective treatment. Additonally molecular testing can identify the disease causing mutations within a family to allow for carrier testing.|
|Detection||Homozygosity for C282Y will be identified in 60-90% of individuals with hemochromatosis
Compound heterozygosity for C282Y and H63D will be seen in 3-8% of individuals with hemochromatosis
Homozygosity for H63D will be found in approximately 1% of patients.
|Specimen Requirements||5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml|
|Transport||The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.|
|Turnaround time||1 week|
Molecular Diagnostic Lab
The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.