Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

摘要: Rapid genomic testing is a valuable new diagnostic tool for acutely unwell infants, however exome sequencing does not deliver clinical-grade mitochondrial genome and may fail to diagnose disorders caused by DNA (mtDNA) variants. analysis are routinely available in rapid diagnosis programmes. We present two critically ill neonates with transfusion-dependent anaemia persistent lactic acidosis who underwent tandem as part of an sequencing-based programme. No variants were identified on examination the nuclear data either infant. Mitochondrial large mtDNA deletion both diagnosing Pearson syndrome within 74 55 h, respectively. Early third week life allowed avoidance range other investigations appropriate treatment planning. provides additional clinical utility should be considered adjunct