ARUP Laboratories introduces Affymetrix CytoScan HD Array

ARUP LaboratoriesAug 23 2011

ARUP Laboratories, a leading national clinical and anatomic pathology reference laboratory and a leader in innovative laboratory research and development, is pleased to introduce its newest SNP-based microarray technology, the Affymetrix® CytoScan™ HD Array.

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. 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:

• 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."