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Ambry Genetics Introduces "First-Step Exome™" Sequencing Test

Published: Thursday, March 29, 2012
Last Updated: Thursday, March 29, 2012
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Affordable test will report on mutations in all HGMD-defined genes as part of industry-first tiered approach to diagnostic exome testing.

The First-Step Exome reports on all Human Gene Mutation Database (HGMD)-defined genes.
The role of genes in human disease has only been defined in approximately 20% (~4,400 of ~20,000 genes) of the human genome. The First-Step Exome analyzes the DNA sequence of the exons (coding regions) and flanking intronic regions of these ~4,400 genes. Ambry Genetics believes that the targeted exome sequencing provided by the First-Step Exome is appropriate for a variety of whole exome sequencing indications and will yield the answers clinicians are seeking in many clinical scenarios without the added expense and complexity of whole exome analysis.

“With the launch of the First-Step Exome, Ambry Genetics now offers unparalleled flexibility in exome testing,” said Charles Dunlop, Chief Executive Officer of Ambry Genetics. “The First-Step Exome reports on all HGMD-defined genes at a lower price point than other similar tests offered by competitors. Moreover, after clinicians receive results, we offer them the flexibility to easily reflex to our whole-exome Clinical Diagnostic Exome™ test.”

Four individuals with rare genetic conditions for which the cause could not previously be identified were recently successfully diagnosed using Ambry Genetics’ proprietary new Clinical Diagnostic Exome, three at Kennedy Krieger Institute in Baltimore and one at a large, Ivy League-affiliated university hospital in New York City.

“Building on our successful launch of the Clinical Diagnostic Exome, the First-Step Exome provides a realistic option for clinicians who want to utilize whole exome sequencing in the diagnosis of their patients, but are not prepared to explore the uncharted territory of novel genes or incidental findings,” said Elizabeth Chao, M.D., Director of Translational Medicine at Ambry Genetics. “We believe that the First-Step Exome will become a popular option for clinicians considering exome testing for a variety of indications. For example, this test may be the prudent exome sequencing option for disease phenotypes that have many previously defined genes in the diagnostic differential, but for which traditional genetic testing options for clinical testing are unavailable or cost-prohibitive.”


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