Whole-Genome Sequencing Helpful When a Mitochondrial Disorder Is Suspected

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NEW YORK (Reuters Health) – Whole-genome sequencing (WGS) can shorten the “diagnostic odyssey” for patients with suspected mitochondrial disorders, report researchers in the United Kingdom.

Mitochondrial disorders affect about one in 5,000 people and are among the most common cause of inherited metabolic disease, yet are tough for clinicians to diagnose. Current genetic testing protocols fail to diagnose about 40% of patients.

Researchers with the University of Cambridge set out to see whether WGS could be used to define the molecular basis of suspected mitochondrial disorders in patients evaluated in mainstream secondary care as well as tertiary centers in the U.K. National Health Service (NHS).

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