Exome sequencing unravels complex genetic diagnoses in growth disorders

A study conducted by researchers at the University of São Paulo’s Medical School found that using exome sequencing to diagnose growth disorders in children with overlapping symptoms and conditions is highly effective. The technology has reduced the need for a long diagnostic journey and has led to accurate diagnoses and treatment. The team sequenced the exomes of 115 patients, diagnosing 63 on the basis of the genetic analysis, 9.5% of whom had multiple diagnoses. The study highlights the need to use broad genetic tests for these patients, as the only way to identify rare diseases that cause clusters of conditions. The researchers advocate recognition of multiple genetic diagnoses and the development of next-generation sequencing techniques. However, they noted challenges including the high cost of genetic tests and a 50% success rate of exome sequencing in the diagnosis of complex cases.

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