Under the agreement, Transgenomic will provide its Nuclear Mitome test, designed to detect mitochondrial disorders, for use at MCW’s clinical sequencing program to identify mutations in 448 genes that are considered important for mitochondrial function.

Transgenomic said mitochondrial disorders are caused by inherited or acquired mutations in mitochondrial DNA and can affect liver, the brain and nervous system, kidneys and cardiovascular function.

Transgenomic chief executive officer Craig Tuttle said 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.

"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," Tuttle added.

Medical College of Wisconsin Human and Molecular Genetics Center director Howard Jacob said 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.

"The ability to evaluate 400-plus genes with one diagnostic tool should shorten patients’ diagnostic odysseys and provide faster answers," Jacob added.