Clínic Barcelona. Hospital Universitari
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Exome sequencing: new diagnostic tool for mitochondrial disease

The clinical laboratory plays a very important role in the diagnosis of mitochondrial diseases through biochemical and molecular studies. But the wide range of clinical manifestations and clinical phenotypes makes diagnosis very difficult. The implementation of next generation sequencing (NGS) approach for the diagnosis of mitochondrial diseases such as exome sequencing has become a powerful tool to achieve the definitive diagnosis of many patients.

Biomedical Diagnostic Center (CDB)

Villarroel, 170 · 08036 Barcelona
Tel: +34 93 227 54 64 · Fax: +34 93 227 98 75 · · www.hospitalclinic.org