Hemochromatosis

“Rare inherited diseases” Real-time PCR based SNP genotyping assay allows detection of highly penetrant mutations associated with severe inherited conditions. The employed Real-time PCR method discriminates alleles thus providing genotype information to aid in the diagnosis of an inherited disease.

Hemochromatosis (pigment cirrhosis, bronze diabetes) is a disease characterized by congenital or hereditary disorder of iron metabolism in the human body.

Hemochromatosis diagnosis is based on the presence of familial cases of the disease, elevated levels of serum iron and multiple organ damage.

Molecular genetic diagnosis of HHC allows making a diagnosis of HHC without using additional complex and costly methods. Laboratory parameters should be measured over time and cannot substitute molecular genetic diagnosis, because there is no iron overload syndrome in the latent stage of hemochromatosis.

If existence of iron overload syndrome is proved by the laboratory and if the patient is homozygous for C282Y or compound heterozygous for C282Y/H63D, HHC diagnosis can be considered established. For verification of the diagnosis in case of confirmed carriage of these mutations and in the absence of clinical symptoms of cirrhosis, there is no need to carry out liver biopsy.

Timely initiated treatment (bloodletting and use of iron chelators) and complex preventive measures (diet with reduced iron content and limiting alcohol consumption) can completely prevent the development or further progression of the disease.

The DNA-Technology HEMOCHROMATOSIS SNP genotyping Kit is intended for detection and allelic discrimination of mutations associated with hereditary hemochromatosis, an autosomal recessive iron metabolism disorder (OMIM #235200). The genotype information obtained from the assay can be used to diagnose the probability of disease progression.

Sample: peripheral blood

DNA extraction: PREP-GS-GENETICS and PREP-RAPID-GENETICS kits

Certification: CE/IVD