Diagnosis of pediatric mitochondrial diseases via targeted next-generation sequencing (NGS): real-world data with the Blueprint Genetics® platform

Abstract Background The diagnosis of mitochondrial disorders (MDs) in pediatric patients is complex and often delayed due to heterogeneous clinical presentations and limited access to invasive confirmation tests such as muscle biopsy. Objective To evaluate the diagnostic sensitivity and specificity...

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Auteurs principaux:	Annamaria Sapuppo, Grete Francesca Privitera, Vincenzo Sortino, Piero Pavone, Agata Polizzi, Martino Ruggieri, Raffaele Falsaperla
Format:	Artigo
Langue:	Inglês
Publié:	BMC 2026-04-01
Collection:	Orphanet Journal of Rare Diseases
Sujets:	Mitochondrial diseases Next-generation sequencing Pediatric neurology Diagnostic sensitivity Blueprint genetics Buccal swab
Accès en ligne:	https://doi.org/10.1186/s13023-026-04213-9
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