Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis
Gorman E, Dai H, Feng Y, Craigen W, Chen D, Xia F, Meng L, Liu P, Rigobello R, Neogi A, Eng C, Wang Y. Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis. Frontiers In Genetics 2025, 16: 1488956. PMID: 40110048, PMCID: PMC11920145, DOI: 10.3389/fgene.2025.1488956.Peer-Reviewed Original ResearchNext-generation sequencingMitochondrial genomeComprehensive molecular diagnosisMitochondrial disordersMitochondrial diseaseMolecular diagnosisNext-generation sequencing panel testingMolecular diagnosis of mitochondrial disordersDiagnosis of mitochondrial disordersDisease-causing genesPanel testingMtDNA genomeNuclear genomeNuclear genesMtDNA heteroplasmyDiagnosing mitochondrial disordersMitochondrial heteroplasmyHeteroplasmy levelsGenomeP/LP variantsGenetic heterogeneityMtDNAHeteroplasmyGenomic testingPhenotypic variability
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