SYDNEY, AUSTRALIA - Dec 10, 2018 - AusDiagnostics has CE marked a new kit for detection of haemochromatosis - a genetic disease that results in iron overload and eventually organ failure. It is one of the most common genetic disorders, especially in people from Northern Europe, but is under diagnosed due to the similarity of symptoms with other disorders.
This is the first genetic disorder for which AusDiagnostics has manufactured an IVD device.
It is caused by mutations in the hFE gene which was identified as responsible for deficiencies in iron transport in 1996. Mutant hFE protein impairs the normal uptake and execution of iron causing it to accumulate at inappropriate sites.
The newly released molecular test for haemochromatosis measures the concentration of the wild type and mutant alleles of hFE at three different mutation sites and can accurately diagnose susceptibility to haemochromatosis from a small blood sample.
AusDiagnostics Managing Director Professor Keith Stanley said that the new kit marked a significant step for the company.
This is a new area for AusDiagnostics kits and is the first of several genetic tests that the company plans to release, he said.
The kit is also included in the Australian Register of Therapeutic Goods.
AusDiagnostics registered as an Australian company in 2006 and now employs around 50 staff across four countries. Its proprietary technology, Multiplexed Tandem PCR, was patented in 2005 following a START grant from the Australian Government to Corbett Research PTY Ltd. MT-PCR allows multiplexing any number of gene targets and can detect minor pathogens even in the presence of a large abundance of other pathogens. This makes it very useful for dual or multiple infections.