Compared to the current ACMG recommended cystic fibrosis variant panel, the MiSeqDx Cystic Fibrosis 139-Variant Assay offers:
Improved Detection Rates of Cystic Fibrosis-Causing Variants
Detection of couples at risk increased from 72% to ~91%1
Reduced Additional Testing
Highly accurate and reproducible sequencing technology delivers dependable results
The MiSeqDx Cystic Fibrosis 139-Variant Assay is an FDA-cleared in vitro diagnostic (IVD) next-generation sequencing test designed to detect 139 CFTR variants as defined in the CFTR2 database. Other methods test only for those variants most commonly found in Caucasians, potentially missing CF-causing variants across broader ethnic groups. The MiSeqDx Cystic Fibrosis 139-Variant Assay offers the largest CF variant panel to overcome this bias and provide comprehensive detection across diverse demographics.2
Widely adopted next-generation sequencing
The MiSeqDx Cystic Fibrosis 139-Variant Assay provides a fully integrated molecular CF testing solution on the MiSeqDx instrument. Simply prepare libraries from 250 ng gDNA, load on to the MiSeqDx for sequencing using Illumina sequencing by synthesis (SBS) chemistry, and analyze with the user-friendly software. The automated workflow is quick and easy to perform, potentially minimizing human error.