Ambry Genetics publishes data on high detection rates for its clinical exome sequencing assay

Nov. 17, 2014

Ambry Genetics has announced the publication of its clinical exome sequencing cohort data in Genetics in Medicine (GIM). Ambry’s clinical exome sequencing test, called ExomeNext is a family-based genomic test that analyzes both characterized and novel (previously unidentified) genes.

According to the GIM article, characterized genes account for 30 percent of positive patients in the cohort. Seven percent were found to have changes in novel genes findings subsequently corroborated by other peer-reviewed publications since 2011. The GIM data also highlights the fact that exome sequencing is a very powerful tool to identify underlying diagnoses in patients with inherited neurological conditions.

“Trio testing [of an individual and his/her parents] is a really important element of exome sequencing, as it definitely impacts the detection rate for families. It gives them a better chance of finding an answer for their undiagnosed condition,” says Kelly Farwell, MS, CGC Senior Manager of Clinical Genomics at Ambry.

ExomeNext is currently covered by many insurance companies and averages an eight-week turnaround time for the main test and a three-week turnaround time for the quicker/medically urgent option (ExomeNext-Rapid). Both tests include trio samples comprehensive and clear results interpretation additional family member analysis as well as mitochondrial DNA (mtDNA) analysis. Read the GIM article.

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