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ARUP Labs Adopts Affymetrix's CytoScan HD for Testing Service

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By Justin Petrone

ARUP Laboratories is now offering constitutional genetic testing on Affymetrix's CytoScan HD Array platform.

The Salt Lake City-based reference lab said this week that the CytoScan HD can be ordered for the following indications: 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 uniparental disomy or increased risk of a recessive disorder; to characterize previously identified cytogenetic abnormalities such as unbalanced rearrangements, duplications, deletions, or ring and marker chromosomes, and analysis of apparently balanced rearrangements in individuals with an abnormal phenotype.

ARUP President and CEO Edward Ashwood said in a statement that the reference lab is "pleased" with CytoScan HD's "accuracy and performance." He said the adoption of the new array was part of the lab's goal of providing "high-quality genetic testing."

Affy launched its CytoScan HD Array last month. The chip includes more than 2.6 million copy number markers, of which 750,000 are genotypeable SNPs and 1.9 million are non-polymorphic probes. The Santa Clara, Calif.-based vendor claims the array enables accurate breakpoint estimation, high-resolution loss of heterozygosity determination, detection of uniparental isodisomy and regions identical-by-descent, as well as low-level mosaicism visualization and heterogeneity measurements (BAN 7/26/2011).

The addition of CytoScan HD complements ARUP's current array-based cytogenetic testing menu. The lab also offers its internally designed UArray, which is used for comparative genomic hybridization and is manufactured by Agilent Technologies. ARUP also offers array CGH-based prenatal screening, although it does not disclose the manufacturer on its website. A high-density array focused on the X chromosome is also available. The 720,000-probe CGH chip is manufactured by Roche NimbleGen.