This article has been updated from a version posted March 18 to include pricing information.
RainDance Technologies last week announced that in collaboration with Emory University and Greenwood Genetic Center, it has launched two sequencing-based screening panels for research purposes to identify mutations associated with autism spectrum disorder as well as disease-causing mutations that occur on the X chromosome.
The panels are based on RainDance's microdroplet-based targeted sequencing technology and are compatible with all current next-gen sequencing platforms. The autism panel will cost between $500 and $600, while the X chromosome panel will run from $650 to $800, depending on the volume of purchase.
RainDance said that the autism spectrum disorder panel, ASDseq, offers 92 percent design coverage across 62 genes known to be associated with autism spectrum disorders. The panel covers the exons for each gene, 1 kilobase of the 5' promoter region and 3' untranslated regions, as well as 50 bases upstream and downstream of each exon in order to capture intron and exon splice junctions. It includes both autosomal and X-linked forms of the disorder.
The XSeq panel, meantime, covers 98 percent of the more than 1,000 genes on the X chromosome, including all genes known to be associated with Mendelian disorders, as well as the 600 genes that have not yet been associated with a Mendelian disorder. The sequence coverage includes all exons, the 5' promoter region, and the 3' untranslated regions for each gene, RainDance said.
"Whole-genome and whole-exome sequencing methods are still too expensive; the large amount of data is difficult to manage in a clinical laboratory," Madhuri Hegde, senior director of Emory Genetics Laboratory, said in a statement.
While these panels will be offered for research purposes only, Emory University does offer screening panels in its CLIA-certified, CAP-accredited laboratory for X-linked intellectual disability, congenital muscular dystrophy, and congenital disorders of glycosylation. For those tests, it uses RainDance's capture technology and sequencing on Life Technologies' SOLiD (IS 5/25/2010).