RainDance Technologies Launches Two Comprehensive Genetic Screening Research Tools for Identifying Mutations Associated with X-Chromosome and Autism Spectrum Disorders

RainDance Technologies, Inc., today announced the commercial availability of the ASDSeq™ and XSeq™ Research Screening Panels. Developed in collaboration with Emory University and Greenwood Genetic Center, the two comprehensive panels enable researchers to simultaneously interrogate key genes known to be linked to X-chromosome disorders and syndromic forms of Autism Spectrum Disorder (ASD) using next-generation sequencing. The announcement was made at the 20th Annual Clinical Genetics Meeting (ACMG) in Vancouver, British Columbia, Canada.

Recent scientific findings indicate there are more than 800 protein-coding genes, on the X chromosome, including many that play a role in autism and other developmental disorders. To date, the widespread investigation of these genes has been constrained by the high experimental cost of current methods and inadequate analytic resolution.

Commonly used technologies, such as microarrays and real-time PCR, have made it difficult to detect many of the important sequence mutations associated with these complex disorders. The RainDance ASDSeq™ panel and XSeq™ panel are based on the company’s proven microdroplet-based targeted sequencing technology, which features the industry’s leading coverage for detecting mutations central to understanding these types of disorders.

ASDSeq™ Panel
The RainDance ASDSeq Research Screening Panel uses next-generation DNA sequencing to offer more than 92 percent design coverage across 62 genes that contain mutations known to be associated with ASD. Covered gene targets include all exons for each gene, 1 kilobase of the 5-prime promoter region and 3-prime untranslated regions (UTRs), as well as 50 bases upstream and downstream of each exon to capture intron/exon splice junctions. The genes represented in the ASDSeq panel include autosomal (BRAF, FMR1, FOLR1, PNKP, PTPN11, SLC2A1, TCF4 and ZEB2) as well as X-linked (HPRT and NHS) forms of the disorders.

XSeq™ Panel
The RainDance XSeq Research Screening Panel also utilizes next-generation DNA sequencing to offer more than 98 percent coverage of the more than 1,000 genes encoded on the gene-rich human X chromosome . This includes more than 600 genes that have yet to be associated with a Mendelian disease and all known Mendelian disorder genes. Coverage includes all exons, the 5-prime promoter region and 3-prime UTR for each gene. A few of the commonly sequenced genes represented in the XSeq panel, which can be sequenced together in a single powerful assay method, include ALD, DMD, FMR1, GLA and IL2RG.

“For the first time, we have access to a cost-effective solution that allows us to use next-generation sequencing to simultaneously interrogate more than 1,000 genes on the X chromosome,” said Michael Zwick, Ph.D., Assistant Professor, Emory University. “This allows us to generate accurate, consistent and reproducible data at a fraction of the overall sample cost compared to previous sequencing methods.”