CFTR MASTR Dx - Multiplicom

A CE-IVD validated diagnostic assay for mutation analysis of the complete CFTR gene by NGS

The CFTR MASTR™ Dx is a molecular diagnostic assay for identification of sequence variants covering the complete CFTR gene in individuals with increased risk for CF, in CF-carriers or CF-related phenotypes.

Cystic Fibrosis (CF) is a life shortening, infancy onset, autosomal recessive disorder with an incidence of about 1 in 2,500 live births and a carrier frequency of about 1 in 25 in individuals from European descent. More than 1,965 variants in the CFTR gene have been identified, of which worldwide fewer than 20 mutations occur with a frequency above 0.1%. The mutations occur with regional or ethnic variation in frequency and give rise to a wide range of clinical symptoms. CFTR variants are also found in CF-related phenotypes, such as CBAVD, present in 25% of patients with excretory azoospermia. A distinct spectrum of CFTR mutations was observed in this disease. Routine testing is limited to the most prevalent CFTR mutations, therefore increasing the risk of missing disease-causing mutations, which can now be detected with the more comprehensive and sensitive CFTR MASTR™ Dx. CFTR gene analysis represents a considerate part of routine tests performed in the clinical lab, either to complete the diagnosis for CF or CF-related diseases, or as part of a CF-carrier screening set-up. In this, due to its high detection rate, CFTR MASTR™ Dx aids in an optimal diagnosis, counseling and advice, irrespectively of any ethnic and/or regional background.

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Petra Kupková

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