Transgenomic to Provide Clinical Next-Generation Sequencing Service

31 Jul 2012
Sonia Nicholas
Managing Editor and Clinical Lead

Product news

Transgenomic, Inc. and the Medical College of Wisconsin (MCW) have announced a collaboration agreement under which Transgenomic will offer next-generation genetic testing services performed at the MCW Clinical Sequencing Program. These services will initially include Transgenomic’s NuclearMitome Test for mitochondrial disorders.

Under the agreement, the MCW laboratory will become the first to offer Transgenomic’s NuclearMitome Test. The NuclearMitome Test employs next-generation sequencing technology to identify mutations in 448 genes that are considered important for mitochondrial function, representing the most comprehensive genetic test available for mitochondrial disorders.

Mitochondrial disorders are often caused by inherited or acquired mutations in mitochondrial DNA and can result in symptoms affecting multiple organ systems, including the liver, the brain and nervous system, kidneys, and cardiovascular function.

“The NuclearMitome Test is designed to improve the speed and precision of diagnosis for a host of mitochondrial disorders, allowing clinicians to plan the most effective treatment strategy,” said Craig Tuttle, Chief Executive Officer of Transgenomic. “The Medical College of Wisconsin is a world-renowned institution with a robust presence in genomics and genetic testing. This collaboration allows Transgenomic to rapidly expand the commercial use of our NuclearMitome Test in addition to building out our offerings in whole genome and exome testing. We look forward to working with MCW, and to building rapid value through these products.”

“Diagnosing mitochondrial disorders can be quite challenging and, until now, has typically involved the use of wide-ranging genetic and non-genetic tests as well as consultation with various medical specialties,” said Howard Jacob, Ph.D., Director of the Human and Molecular Genetics Center at MCW. “The ability to evaluate 400-plus genes with one diagnostic tool should shorten patients’ diagnostic odysseys and provide faster answers. We look forward to a successful partnership.”

Links

Tags

Genome AnalysisGenomics, the study of genomes, includes functional genomics, evolutionary genomics and comparative genomics. There are many genomic technologies such as DNA sequencing of whole genomes, computational biology and bioinformatics. DNA and nucleic acids must be isolated and concentrated from cells for analysis with kits, automated analyzers and software. Other useful technologies for studying genomics include PCR, microarrays and electrophoresis.Clinical GeneticsMolecular Genetics covers the analysis of hereditary genetic disease and chromosomal abnormalities. Genetics can be analysed using DNA, RNA, and protein microarrays, PCR, RT PCR and DNA sequencing. Genetic equipment includes genetic workstations, thermal cyclers, cooling blocks and electrophoresis products. Diagnostic kits are used for DNA / RNA extraction and purification.Next Generation SequencingNext-generation sequencing (NGS), also known as whole-genome sequencing, high-throughput sequencing and massive parallel sequencing, produces and analyses thousands to millions of nucleotide sequences at once. Sequencing systems operate via varying technologies depending on the manufacturer, including sequencing by synthesis, ligation, pyrosequencing, ion semiconductor and single-molecule real-time sequencing. For NGS, library preparation is paramount to successful sequencing. In this section, explore a range of library preparation kits, from targeted, amplicon-based or hybridization-based kits including epigenomic, transcriptomic and genomic workflows to fragmentation kits. Find the best next-generation sequencing products in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Clinical NGSNext Generation Sequencing (NGS) refers to the use of massive parallel sequencing of multiple small fragments of DNA. This high-throughput genomic analysis yields enormous amounts of sequence data, which if appropriately analyzed could have huge potential for clinical laboratories. For this to happen there are technique and bioinformatic hurdles to be overcome.Mitochondrial Disorders
Transgenomic to Provide Clinical Next-Generation Sequencing Service