Ontology highlight
ABSTRACT:
SUBMITTER: Akesson LS
PROVIDER: S-EPMC6871088 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Akesson Lauren S LS Eggers Stefanie S Love Clare J CJ Chong Belinda B Krzesinski Emma I EI Brown Natasha J NJ Tan Tiong Y TY Richmond Christopher M CM Thorburn David R DR Christodoulou John J Hunter Matthew F MF Lunke Sebastian S Stark Zornitza Z
European journal of human genetics : EJHG 20190729 12
Rapid genomic testing is a valuable new diagnostic tool for acutely unwell infants, however exome sequencing does not deliver clinical-grade mitochondrial genome sequencing and may fail to diagnose mitochondrial disorders caused by mitochondrial DNA (mtDNA) variants. Rapid mitochondrial genome sequencing and analysis are not routinely available in rapid genomic diagnosis programmes. We present two critically ill neonates with transfusion-dependent anaemia and persistent lactic acidosis who under ...[more]