10.03.2015 13:39:55

Quest Diagnostics Reports Availability Of Neurome - Quick Facts

(RTTNews) - Quest Diagnostics (DGX), a provider of diagnostic information services, Tuesday announced the availability of Neurome, a whole exome sequencing service designed to aid the diagnosis of rare neurological disorders in pediatric populations.

Personalis, Inc., a genomics-based diagnostic laboratory, developed and performs the lab-developed test exclusively for Quest Diagnostics.

Neurome facilitates the diagnosis of ill-defined neurological disorders with a suspected genetic cause, including some forms of developmental delay, epilepsy and muscular dystrophy.

Based on Personalis' proprietary ACE Exome technology, Neurome specifically interrogates areas of the genome that affect the nervous system, including clinically interpretable genes and certain medically significant non-protein coding regions.

Personalis' clinical team interprets sequence results based on the patient's neurological signs and symptoms, as described by their healthcare provider in a comprehensive test requisition. It utilizes extensive, curated information on the associations of genes and genetic variants to neurological conditions. The resulting test report provides sequencing findings and their clinical interpretation specific to the patient's suspected disorder.

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