Illumina has applied for CE Mark approval for its MiSeqDx Cystic Fibrosis System, which can identify several variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patient samples.
Last month, the company announced conformity with the requirements of the IVD Directive.
The company intends to commercialise the system in several European markets that require CE marking.
Intended for use by the clinical molecular diagnostics market, the MiSeqDx Cystic Fibrosis System is equipped with the MiSeqDx next-generation sequencing instrument, two assays - the MiSeqDx Cystic Fibrosis Diagnostic Assay and the MiSeqDx Cystic Fibrosis Carrier Screening Assay - and related software.
Leveraging Illumina's targeted resequencing chemistry, the system quickly and accurately identifies all variants in the CFTR gene in patient samples.
The assay is claimed to offer more accurate clinical information than the available cystic fibrosis genotyping assays.
The MiSeqDx Cystic Fibrosis Carrier Screening Assay can detect 162 functionally-verified, clinically-relevant variants within the CFTR gene at the same time.
These variants comprise those that are recommended for carrier screening purposes in the US guidelines.
A life-threatening, inherited single-gene disorder that affects more than 70,000 people worldwide, cystic fibrosis is caused by mutations in the CFTR gene.
Illumina Diagnostics business senior vice president and general manager Greg Heath said the MiSeqDx Cystic Fibrosis System empowers more precise medicine, and shortens the path to a clinical diagnosis by sequencing the entire CFTR gene.
"The system provides clinicians and genetic counselors [with] 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," Heath added.
The company also intends to expand its offering with additional assays.