ASDSeq™ Research Screening Panel*
RainDance Technologies has collaborated with investigators at Emory University and Greenwood Genetic Center to design a comprehensive genetic screening panel for Autism Spectrum Disorder (ASD) research. The ASDSeq™ Research Screening Panel enables researchers to interrogate 62 genes known to affect ASD, in a single assay. Researchers can now cost-effectively apply next-generation sequencing (NGS) more routinely to detect known and novel mutations leading to syndromic forms of this pervasive developmental disorder.
ASD has been a highly active area of research, evidenced by the publication of more than 17,000 peer-reviewed scientific studies over the past ten years1. Despite the growing knowledge base in ASD, life science research has struggled to identify all of the causative mutations implicated in these conditions. Whole-genome sequencing is expensive and not conducive for routine clinical use; hybridization-based sequence enrichment methods and whole-exome sequencing often lack the required genomic coverage and specificity to target and capture all of the genes and their 5’ promoter and 3’ untranslated regions (UTRs).
The RainDance ASDSeq panel delivers the most extensive coverage of the genes associated with this complex disorder.
The RainDance ASDSeq™ Panel Advantage
- Sequence more relevant genes at the same time: Analyze 62 genes associated with ASD in a single test with greater than 92% design coverage of the targeted regions across coding and non-coding exons, splice junctions and 1 kilobase (kb) of both the 5’ promoter and 3’ UTRs.
- Discover more causative mutations: Gain unprecedented single-base resolution of both common and rare genomic mutations associated with ASD.
- Interrogate challenging regions of the genome: Examine exons, repetitive sequences, splice sites, regulatory regions, and areas of high homology.
- Eliminate enrichment bias: Maintain allelic representation of heterozygous alleles with single-molecule PCR.
- Optimize sequencer efficiency and increase sample throughput: Reduce amount and cost of downstream NGS required with greater amplification uniformity and enrichment specificity.
- Apply next-generation sequencing technology more routinely: Generate accurate, consistent and reproducible data at a fraction of the overall sample price compared to Sanger sequencing methods.
- Accelerate time to results and simplify workflow: Leverage fully automated instrumentation and intuitive analysis workflow that produces more than 1 million separate PCR reactions in less than 1 hour. Decrease overall processing time to less than 8 hours compared to multi-day hybridization-based sequence enrichment methods.
Comprehensive Content
The RainDance ASDSeq panel is the only genetic screening tool to offer greater than 92% coverage of 62 genes that contain mutations known to be associated with ASD. Coverage includes all exons for each gene plus 50 bases up and downstream of each exon to capture intron/exon splice junctions, as well as 1 kb of both the 5’ promoter region and 3’ UTRs. The genes represented in the ASDSeq Research Screening Panel include autosomal (BRAF, FOLR1, PNKP, PTPN11, SLC2A1, TCF4 and ZEB2) as well as X-linked (HPRT and NHS) forms of the disorder.
| Autosomal Genes | ||||
|---|---|---|---|---|
| AVPR1A | DHCR7 | MBD5 | PTEN | TCF4 |
| BDNF | EHMT1 | MEF2C | PTPN11 | TSC1 |
| BRAF | FOLR1 | MET | RAI1 | TSC2 |
| CACNA1C | FOXG1 | NIPBL | RELN | UBE3A |
| CHD7 | FOXP1 | NRXN1 | SCN1A | ZEB2 |
| CNTNAP2 | FOXP2 | NSD1 | SHANK3 | |
| COH1-VPS13B | GABRB3 | PAFAH1B1 | SLC2A1 | |
| CREBBP | HOXA1 | PNKP | SLC6A4 | |
| X-Chromosome Genes | ||||
|---|---|---|---|---|
| AP1S2 | DMD | L1CAM | NLGN3 | PQBP1 |
| ARX | FGD1 | MECP2 | NLGN4X | PTCHD1 |
| ATRX | FMR1 | MED12 | OPHN1 | RAB39B |
| CASK | HPRT1 | MID1 | PCDH19 | SLC9A6 |
| CDKL5 | KDM5C | NHS | PHF6 | SMC1A |
*The RainDance ASDSeq™ Research Screening Panel is for research use only. Not for diagnostic purposes.
References
“Whole-genome and whole-exome sequencing methods are still too expensive; the large amount of data is difficult to manage in a clinical laboratory; and hybridization-based capture methods lack the required genomic coverage and specificity to target many of these important genes. The RainDance panels enable us to apply next-generation sequencing more routinely to projects focused on the specific genetic mutations that contribute to autism and other X-linked disorders.”
Madhuri Hegde, Ph.D., FACMG, Senior Director of Emory Genetics Laboratory and Associate Professor in the Department of Human Genetics, Emory University School of Medicine.
Press Release
