First X-Linked Mental Retardation Diagnostic Panel Developed

A range of genetic tests has been developed that are expected to pinpoint the cause of intellectual disability and X-linked mental retardation (XLMR).

This panel marks the first time next-generation sequencing technology, combined with microarrays, Sanger sequencing, and traditional fragile-X testing, is being made clinically available to address this disorder, giving physicians a full range of reflex options to suit the needs of their patients.


The Ambry Genetics' (Aliso Viejo, CA, USA) XLMR SuperPANEL spans all levels of genetic resolution, from genome-wide scan through focused study of the X chromosome to base-pair analysis of approximately 90 specific target genes. Components include the XLMR Array Plus, the XLMR Next Gen Sequencing Panel, and individual sequencing tests including Fragile X. Testing can be customized for individual patients. The Sequencing Panel uses new and innovative technologies, including RainDance Technologies' (Lexington, MA, USA) RDT 1000 system for sequence enrichment with the Illumina genome analyzer IIx. Ambry has been an Illumina-certified service provider for research services since 2007.

"I'm very excited about the various technologies we applied to this suite of tests, and that we can develop similar tests for other complex disease states,” said Anja Kammesheidt, chief scientific officer at Ambry Genetics. "The new technologies create an important paradigm shift and allow us to comprehensively investigate complex genetic disorders in the same way monogenic disorders have been diagnosed for years.”

"Ambry Genetics is ideally suited to bring multigenic assays into the marketplace,” said Charles Dunlop, chief executive officer. "We've not only been performing services on these platforms for years with a very good understanding of the nuances of these technologies, but we also have over a decade of experience launching high information-content sequencing tests. We know how to deal with the interpretation issues that arise at the patient level, and our company is geared towards helping physicians with this type of information.”

Intellectual disability (also called mental retardation) is a lifelong impairment of cognitive and adaptive skills affecting approximately 2% - 3% of the general population. For approximately half of patients who have undergone extensive traditional evaluations, the cause remains unknown. About 10% - 15% of intellectual disability is attributed to genetic defects of the X chromosome and is called XLMR. The disorder affects as many as 1/1,000 to 1/600 males plus a significant number of females.

Ambry Genetics specializes in the application of new technologies to molecular diagnostics and genetics research.

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