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New Product Watch: Sep 7, 2010

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Oxford Gene Technology this week launched its CytoSure ISCA UPD 4 x 180K Array. The array offers users the ability to simultaneously detect DNA copy number variation using OGT's International Standard Cytogenomic Array consortium-endorsed 4 x 180K aCGH Array, along with whole chromosome uniparental disomy using SNP probes, on a single array. The array is available for use in cytogenetic research, according to the British firm.

OGT said that the array's UPD detection capability has been enabled by multiple rounds of SNP probe selection and validation, targeting over 6,000 SNPs with evenly distributed probes. The new array is designed for use with the firm's CytoSure Interpret software.

OGT's arrays are manufactured by Agilent Technologies.


CGC Genetics recently launched its microarray panel for molecular diagnosis of Bardet-Biedl syndrome. The firm also introduced a microarray panel for molecular diagnosis of thrombophilia and warfarin pharmacogenetics.

The first panel covers 70 mutations in 12 genes — BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, TRIM32, MKKS, ARL6, and TTC8 — that are thought to be causative for Bardet-Biedl syndrome. Once a patient with the syndrome is identified using the array, early intervention can be administered with both follow-up treatment and preventive care, according to the Portuguese firm.

Bardet-Biedl syndrome is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism, complex female genitourinary malformations, and renal abnormalities, according to the National Institutes of Health. It affects approximately one in every 100,000 people in the US.

The second panel includes nine mutations associated with thrombophilic risk, including factor V Leiden, factor II G20210A, MTHFR C677T, MTHFR A1298C, PAI 4G/5G, PAI -844 A>G, ACE Ins/Del, beta fibrinogen -455G>A, and factor XIII Val34Leu, as well as three mutations involved in warfarin pharmacogenetics, such as CYP2C9 alleles *2 and *3 and VKORC1 -1639G>A.

Thrombophilia is an inherited disorder of blood clotting. As warfarin is a major treatment option for the disease, the panel will identify both who to treat and the corresponding drug dosage, CGC Genetics said. Around 10 percent of people of European ancestry carry mutations associated with thrombophilia, according to the NIH.

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Sleep-Related Variants Show Low Penetrance in Large Population Analysis

A limited number of variants had documented sleep effects in an investigation in PLOS Genetics of 10 genes with reported sleep ties in nearly 192,000 participants in four population studies.

Researchers Develop Polygenic Risk Scores for Dozens of Disease-Related Exposures

With genetic data from two large population cohorts and summary statistics from prior genome-wide association studies, researchers came up with 27 exposure polygenic risk scores in the American Journal of Human Genetics.