Illumina, Inc. (NASDAQ:ILMN) today announced that it declared conformity with the requirements of the IVD Directive on June 26, 2013 and has applied the CE mark for the MiSeqDx Cystic Fibrosis System. The company is finalizing plans to commercialize the product in a number of European countries that require CE marking. The MiSeqDx Cystic Fibrosis System consists of the MiSeqDx next-generation sequencing instrument, two assays (the MiSeqDx Cystic Fibrosis Diagnostic Assay and the MiSeqDx Cystic Fibrosis Carrier Screening Assay), and associated software. Developed for the clinical molecular diagnostics market, the system leverages Illumina’s targeted resequencing chemistry to provide rapid and accurate identification of variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
The MiSeqDx Cystic Fibrosis Diagnostic Assay provides highly accurate and more actionable clinical information than cystic fibrosis genotyping assays previously available in Europe and offers a comprehensive view of all CFTR variants present in patient samples. The MiSeqDx Cystic Fibrosis Carrier Screening Assay is designed for simultaneous detection of 162 functionally-verified, clinically-relevant variants within the CFTR gene, including all those currently recommended for carrier screening purposes in U.S. guidelines developed by the American College of Medical Genetics (ACMG) and the American Congress of Obstetricians and Gynecologists (ACOG).
“The MiSeqDx Cystic Fibrosis System empowers more precise medicine, and shortens the path to a clinical diagnosis, by sequencing the entire CFTR gene,” said Greg Heath, Senior Vice President and General Manager of the Illumina Diagnostics business. “The system provides clinicians and genetic counselors more definitive results to inform patient care. Now that we have achieved this regulatory milestone, the MiSeqDx will serve as the foundation for future Illumina and partner-developed content. We plan to expand our offering with additional assays.”
Cystic fibrosis is a life-threatening, inherited single-gene disorder that affects more than 70,000 people worldwide. Caused by mutations in the CFTR gene, the disease has a wide clinical presentation depending on which CFTR gene mutations are present. Most CFTR mutations are rare, and their distribution and frequency vary among different world populations.