IVDR accreditation awarded to Yourgene Health Cystic Fibrosis Base assay
Yourgene® Health Cystic Fibrosis Base assay, deemed high-quality and accurate, utilizes amplification-refractory mutation system technology and genetic analyzers to identify common cystic fibrosis (CF) mutations.
Yourgene Health (Manchester, UK), an international molecular diagnostics group that is part of Novacyt (Vélizy-Villacoublay, France), has obtained the accreditation of in vitro diagnostic regulation (IVDR) for its Cystic Fibrosis Base assay, indicating that the assay meets strict quality, safety and performance requirements. The assay harnesses an amplification-refractory mutation system and genetic analyzers to identify the 50 most prevalent CF point mutations, insertions or deletions in the DNA of populations of European descent. Unique amongst commercially available assays, it provides more precise CF diagnosis and treatment by identifying the number of TG repeats and polyT status, which both influence CF symptom severity.
CF is the most widespread, life-shortening hereditary genetic condition, affecting 1 in 2500 live births in Caucasians. The disease is caused by a dysfunctional CF transmembrane receptor, which can have over 2000 mutations. Identifying the mutation type is crucial for determining a precise diagnosis and appropriate treatment.
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Testing all mutations is neither feasible nor cost-effective, so the Cystic Fibrosis Base assay screens for the top 50 most common types. In addition to testing for these prevalent mutations across populations of European descent, the assay offers population-specific add-on panels, as well as tests for national programs. These additional tests address the variation between defined geographical populations and ethnic groups.
Importantly, the assay is compatible with all clinically relevant diagnostic scenarios, including carrier screening, newborn screening and male factor infertility testing.
Lyn Rees, CEO of Novacyt, commented, “This […] is one of the first IVDR CF tests on the market. Conformity with IVDR provides clinicians and patients with additional confidence in the high quality and accuracy of our test, which is increasingly becoming an essential test in the detection and diagnosis of CF.”
The applications of the Cystic Fibrosis Base assay are widespread. Modern CF therapies are designed to address specific classes of mutations, so identifying the mutation type enables physicians to prescribe the most effective medication for each patient. The assay can also help to provide insight into disease severity, which is impacted by mutation type. Furthermore, the highly specific genetic analysis provided by the assay could enhance scientific knowledge of CF and its underlying mechanisms, guiding further research and therapy development.
