ARUP Laboratories Announces Its Newest SNP-Based Microarray Technology.
SNP-based microarrays identify unbalanced chromosomal abnormalities (loss and/or gain of DNA) in patients with unexplained abnormal phenotypes such as intellectual disability, dysmorphic features, congenital anomalies and autism. They also identify long contiguous stretches of homozygosity, which may suggest an increased likelihood for a recessive condition or uniparental disomy (UPD).
The Affymetrix CytoScan HD Array interrogates the entire genome using more than 2.6 million markers for copy-number analysis and approximately 750,000 SNPs. The platform offers excellent performance and exceeds current guidelines for specificity, sensitivity and resolution across the genome.1 The high probe density provides broad coverage of constitutional, cancer, OMIM and RefSeq genes on a single array and allows detection of gene-level, copy-neutral LOH, uniparental isodisomy, and regions identical by descent.
The Affymetrix CytoScan Array may be ordered for the following indications:2,3
* Autism/autism spectrum disorder
* Intellectual disabilities
* Multiple congenital anomalies with or without dysmorphic features
* Identification of long contiguous stretches of homozygosity that may be suggestive of UPD or increased risk of a recessive disorder
* To characterize previously identified cytogenetic abnormalities such as an unbalanced rearrangements, duplications, deletions, or ring and marker chromosomes
* Analysis of apparently balanced rearrangements in individuals with an abnormal phenotype
"We are very pleased with the accuracy and performance of the Affymetrix CytoScan HD Array," said Edward R. Ashwood, MD, president and CEO of ARUP Laboratories. "Our goal at ARUP Laboratories is to provide high-quality genetic testing and continue to offer new products that will ultimately help our clients improve patient care."
Visit http://aruplab.com/genetics/index.php for additional information on ARUP's microarray test menu. The CytoScan HD Array can be ordered using test code 2003414, Cytogenomic SNP Microarray.
1) Kearney HM, South ST, Wolff DJ, Lamb A, Hamosh A, Rao KW. A working group of the American College of Medical Genetics. American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities. Genet Med 2011;13(7):676-9.
2) Miller DT et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86(5):749-64.
3) Manning M, Hudgins L. Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 2010;12(11):742-5.
About ARUP Laboratories
Founded in 1984, ARUP Laboratories is a leading national reference laboratory and a nonprofit enterprise of the University of Utah and its Department of Pathology. ARUP offers more than 3,000 tests and test combinations, ranging from routine screening tests to esoteric molecular and genetic assays. ARUP serves clients across the United States, including many of the nation's top university teaching hospitals and children's hospitals, as well as multihospital groups, major commercial laboratories, group purchasing organizations, military and other government facilities, and major clinics. In addition, ARUP is a worldwide leader in innovative laboratory research and development, led by the efforts of the ARUP Institute for Clinical and Experimental Pathology([R]).
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|Date:||Aug 22, 2011|
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