Adult Mitochondrial Disease Nuclear Gene Panel

Test Information

Titre
Adult Mitochondrial Disease Nuclear Gene Panel
Lab
Catégorie
Mitochondrial
Test Name (CMS Title)
Mitochondrial nuclear gene
Gene/Platform/Region List
AARS2, ABCB7, ACADVL, ADCK3, APTX, BCS1L, BOLA3, C10orf2, CLPP, COQ2, COQ4, COQ9, COX10, CPT2, DARS2, DGUOK, DNA2, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FXN, GFER, GFM1, GLRX1 (GLRX2), GLRX5, HADHA, HARS2, HSD17B1, HSPD1, IARS, IARS2, ISCU, LARS2, MARS2, MFN2, MPV17, MRPS16, MRPS22, NFU1, OPA1, PDHA1, PDSS1, PDSS2, POLG, POLG2, PUS1, RARS2, RMRP, RRM2B, SACS, SARS2, SDHA, SDHAF1, SDHB, SDHD, SETX, SLC25A4, SPG7, SUCLA2, SUCLG1, TAZ, TIMM8A, TK2, TSFM, TUFM, TWNK, TYMP, YARS2
Test type
Samples Accepted
Blood, DNA
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
NGS
Disease/Condition
Kearns-Sayre Syndrome, Leber's Hereditary Optic Neuropathy (LHON), MELAS, myoclonic epilepsy with ragged red fibers (MERRF), neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP), Pearson marrow pancreas syndrome, Progressive external ophthalmoplegia (PEO), Hepatocerebral mtDNA depletion syndrome (Deoxyguansine kinase deficiency (DGUOK)), Myopathic mtDNA depletion syndrome (Thymidine kinase deficiency (TK2)), SANDO syndrome, ALPERS syndrome, SCAE syndrome, familial PEO

Dernière Mise à Jour: 09 décembre 2025