Ambry Genetics
1 Enterprise
Aliso Viejo, CA 92656
Aliso Viejo, CA, June 3, 2009 - Ambry Genetics is pleased to announce the launch of whole-genome Chromosomal Microarray Analysis (CMA), offering the Ambry CMA: 105K Oligo Array, which is designed to identify chromosomal abnormalities associated with over 270 genetic disorders. In a partnership with Baylor College of Medicine, Ambry is now able to provide one of the most comprehensive, clinically-validated genetic tests available using array comparative genomic hybridization. Baylor College of Medicine will equip Ambry with an extensive library of over 20,000 patient samples to reference, and expert cytogeneticist support. Ambry is proud to provide Easy-to-Read reports and free specimen submission kits for all their clients. With the addition of aCGH, Ambry now has one of the most extensive genetic testing menus in the industry.
The Ambry CMA: 105K Oligo Array uses 105,000 probes to cover 270 disease loci, with probes at an average resolution of 30Kb along the human genome to detect copy number variations. A copy number variant (CNV) is a region larger than 1 Kb with a variable copy number compared to a reference genome. Humans usually have two copies of each autosomal region, one per chromosome. If only one or no copy is present, the region harbors a deletion, if more than 2 copies are present, it harbors a duplication. Large regions of the human genome are now known to contain CNVs, many of which contribute to normal human variation and are benign. CNVs may contribute to disease if containing genes whose dosage is important for normal function, (pathogenic CNVs). CNVs are actively being studied and classification is ongoing.
"We are very excited to be able to bring this powerful technology to our clients and their patients. This test can help doctors provide the needed information to solve diagnostic dilemmas. We are hopeful our new service will help many people as the capabilities of this technology become more widely recognized." says Steven Keiles, MS, Vice President and Director of Genetic Services at Ambry Genetics.
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Ambry Genetics, a subsidiary of REALM IDx, Inc., translates scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. It is a leader in genetic testing that aims to improve health by understanding the relationship between genetics and disease. Its unparalleled track record of discoveries over 25 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means Ambry Genetics is first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions.
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Mickie Henshall
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REALM IDx
mhenshall@realmidx.com