attomol^® Haemochromatosis Duplex Realtime LT

The assay attomol^® Haemochromatosis Duplex Realtime LT is used for the supportive diagnosis of haemochromatosis. This test can be used for the simultaneous determination of the transition 845G>A (C282Y, rs1800562) and the transversion 187C>G (H63D, rs1799945) in the human HFE gene. It is a manual, qualitative real-time PCR assay based on LoopTag probes, which is evaluated by a melting curve analysis. The sample material has to be genomic DNA prepared from EDTA or citrate blood.

Haemochromatosis is a disturbance of iron storage during which large amounts of iron are disposited in the parenchyma cells, causing damage to the affected tissue. The disease enhances the risk for liver cell carcinoma, cardiomyopathies, diabetes mellitus, arthritis and hypogonadotropic hypogonadism [Fargion, S. et al. [2001] Blood 97: 3707-3712]. Hereditary haemochromatosis is one of the most frequent autosomal recessive diseases. In the European population the mutation C282Y occurs in 10 % of individuals in its heterozygous form and in 0.4 % in its homozygous form. The mutated allele H63D can be found in about 22 % of Europeans [Hanson, E.H. et al. [2001] Am J Epidemiol 154: 193-206]. In 1996, the haemochromatosis gene was identified (HFE gene or HLA-H gene). Scince then, numerous studies have shown that the mutation C282Y in particular is closely related to the disease [Feder, J.N. et al. [1998] Proc Natl Acad Sci USA 95:1472-1477].

• Oligomix HFE Duplex LT
• instructions for use

You can find more informations about the Looptag-Technology here.