Molecular Genetic Testing
Hereditary Hemochromatosis

Indication and Diagnostic Value

Hereditary hemochromatosis is the result of a homozygous mutation in the HLA gene. One out of 400 individuals is affected by hereditary hemochromatosis, which hence is the most common monogenic metabolic disease. The mutation causes the accumulation of ironin the liver, heart, pancreas, endocrine organs and skin. Cirrhosis, cardiomyopathy, diabetis mellitus, hypogonadism, skin pigmentation, and arthritis are common manifestations. Genetic testing can now identify this mutation in patients even before the disease is fully developed. Since hemochromatosis is a potentially lethal disease, the genetic test enables early prevention, for instance by venesection before organ damage can occur.

Caused by a homozygous G>A transition at position 845 mutation in the HFE gene.

Samples and Test Method

IMMD blood stain test paper is required. By using PCR and restriction fragment analysis the test unambiguously identifies homo – and heterozygous G>A transitions at position 845 causing the exchange Cys282Tyr in the HLA gene. The specificity of the diagnosis reaches almost 100%.

Turnaround time for this test is 10 days.

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