Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Arunabha GhoshHelene SchlechtLesley E HeptinstallJohn K BassettEleanor CartwrightSanjeev S BhaskarJill UrquhartAlexander BroomfieldAndrew Am MorrisElisabeth JamesonBernd C SchwahnJohn H WalterSofia DouzgouHelen MurphyChris HendrikszReena SharmaGisela WilcoxEllen CrushellArdeshir A MonavariRichard MartinAnne DoolanSenthil SenniappanSimon C RamsdenSimon A JonesSiddharth BankaPublished in: Archives of disease in childhood (2017)
NGS has significant clinical utility for the diagnosis of IEMs. Biochemical testing and NGS analysis play complementary roles in the diagnosis of IEMs. Incorporating NGS into the diagnostic algorithm of IEMs can improve the accuracy of diagnosis.