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Whole-genome sequencing could help diagnose someone thought to have a mitochondrial disorder, HealthDay News writes.

A University of Cambridge-led team of researchers analyzed whether whole-genome sequencing was a useful diagnostic test among individuals suspected of having a mitochondrial disorder after common causes were excluded. As they report in the BMJ, the researchers found that whole-genome sequencing identified a definite or probable genetic diagnosis for 31 percent of families in their analysis and a possible diagnosis for a further 2 percent.

Of these diagnoses, 37.5 percent were mitochondrial diagnoses, but 62.5 percent were not. Senior author Patrick Chinnery, a clinical neuroscientist at Cambridge, adds in a statement that conventional tests like invasive muscle biopsies are specifically for mitochondrial disorders and would've have diagnosed the other conditions.

This finding indicates that whole-genome sequencing can aid in diagnosis, the researchers say in their paper. "We recommend that whole genome sequencing should be offered early and before invasive tests such as a muscle biopsy," Chinnery says.

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