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GenomeQuest Provides Software, Services to Six Labs Switching from Sanger- to NGS-Based Gene Tests

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GenomeQuest said this week that it is awarding software and services worth more than $120,000 to six laboratories in order to help them transition Sanger-based gene tests to next-generation sequencing platforms.

Under its Lab Grant program, GenomeQuest will provide the recipients with software, annotation data, and infrastructure to process and store NGS data, produce diagnostic reports, and perform follow-up research on individual and aggregate results.

"At this point it appears that the entry path to NGS for a number of labs listed in the GeneTests Laboratory Directory will be through consolidation of existing single-gene testing into multi-gene panels," said Roberta Pagon, professor of pediatrics at the University of Washington, in a statement from GenomeQuest.

The following six grant recipients are looking to transition tests to a next-gen sequencing platform:

• Cincinnati Children’s Hospital Medical Center plans to apply next-gen sequencing to diagnose congenital heart disease, adult and pediatric cardiomyopathy, and cardiovascular disorders with genetic syndromes.

• The Institute of Genomic Medicine at the University of Medicine & Dentistry of New Jersey in Newark plans to use the grant for cystic fibrosis gene testing, but will consider additional tests to diagnose metabolic diseases.

• Nationwide Children’s Hospital in Columbus, Ohio, offers tests for congenital muscular dystrophies and plans to validate next-gen sequencing testing for Noonan syndrome and related disorders; holoprosencephaly, a birth defect of the brain; and infertility.

• The Molecular Diagnostics Laboratory at the University of Massachusetts Medical School/UMass Memorial Medical Center in Worcester, Mass., plans to use next-gen sequencing for genetic testing of cystic fibrosis, diseases common in the Ashkenazi Jewish population, heart disease, lysosomal storage disorders, and dwarfism, as well as to identify bacterial pathogens.

• The Department of Laboratory Medicine and Pathology of the University of Minnesota Medical School in Minneapolis plans to apply next-gen sequencing to pediatric bone marrow transplantation, congenital eye disorders, familial cancer syndromes, cardiology, congenital hearing loss, neurogenetics and neuromuscular disorders, genetic and metabolic pediatric disorders, and intersex disorders.

• The University of Nebraska Medical Center in Omaha plans to focus on developmental disability and autism, connective tissue and cardiomyopathy, bone diseases, neurology, and amyotrophic lateral sclerosis.

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