attomol^® Haemochromatosis Quicktype

The assay attomol^® Haemochromatosis Quicktype is used for the supportive diagnosis of haemochromatosis. This test can be used to determine the transition 845G>A (C282Y, rs1800562) and the transversion 187C>G (H63D, rs1799945) separately in the human HFE gene. It is a manual, qualitative assay using an allel-specific PCR with integrated probe hybridisation. The evaluation takes place by agarose gel electrophoresis, which can be carried out manually or automatically. 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 studieshave 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].

• PCR-H₂O
• PCR-buffer I
• primer C282Y
• primer H63D
• instructions for use

You can find more informations about Quicktype-Technology here.