Ambry Genetics, a global leader in genetic services with a focus on clinical diagnostics and genomics, announces the First-Step Exome test. 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.

About Ambry Genetics

Ambry Genetics is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified commercial clinical laboratory with headquarters in Aliso Viejo, Orange County, Calif. Since its founding in 1999, it has become a leader in providing genetic services focused on clinical diagnostics and genomic services, particularly in sequencing and array services. Ambry has established a reputation for unparalleled service and has been at the forefront of applying new technologies to the clinical molecular diagnostics market and to the advancement of disease research. To learn more about testing and services available through Ambry Genetics, visit http://www.ambrygen.com.

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

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