A new tool for studying the genetic causes of developmental delay was unveiled at a recent human genetics conference.

Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders, up to half of children with severe developmental disorders of probable genetic origin remain without a genetic diagnosis. Particularly challenging are those disorders rare enough to have eluded recognition as a discrete clinical entity, those with highly variable clinical manifestations, and those that are difficult to distinguish from other, very similar, disorders.

A new tool for studying the genetic foundation of developmental delay, the Oxford Gene Technology (Oxford, United Kingdom) Cytosure Constitutional v3 DNA microarray, was introduced to genomic researchers at the June 2015 European Society of Human Genetics (ESHG) Conference held in Glasgow (United Kingdom).

The Cytosure Constitutional v3 array was developed in collaboration with the Wellcome Trust Sanger Institute (Hinxton, United Kingdom). This tool combines the most up-to-date and relevant developmental delay content from the recent Deciphering Developmental Disorders (DDD) study with the latest updates from ClinGen, an international cooperative dedicated to sharing genomic and phenotypic developmental disorder data provided by clinicians, researchers, and patients through centralized databases for clinical and research use.

Oxford Gene Technology has optimized the arrays via a proprietary probe design algorithm and experimental validation, enabling the selection of highly-targeted, specific probes throughout the genome. Regions with the highest priority are covered at exon-level resolution on the arrays, enabling single-exon detection in up to 502 prioritized genes of interest.

James Clough, executive vice president commercial at Oxford Gene Technology, said, “Through combining our superior array design capabilities with the latest research-led gene content, we are proud to offer our customers the most advanced array design available for accurately and easily identifying the causal aberrations underlying developmental delay. These new products underline Oxford Gene Technology’s long-standing commitment to providing cytogenetics researchers with the latest tools to further understand developmental disorders.”

Related Links:
Oxford Gene Technology
Wellcome Trust Sanger Institute
ClinGen