'Ambry Genetics Announces Launch of Chromosomal Microarray to Offer Whole Genome Analysis'
Posted on: Wednesday, 3 June 2009, 13:29 CDT
(Logo: http://www.newscom.com/cgi-bin/prnh/20090428/LA06744LOGO)
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
About Ambry Genetics
Headquartered in
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SOURCE Ambry Genetics
Source: PR Newswire
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