Genetic Test Details
Adult Mitochondrial Disease Nuclear Gene Panel
Test Information
- Title
- Adult Mitochondrial Disease Nuclear Gene Panel
- Category
- Mitochondrial
- Sub Category
- 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
- Gene Panel
- Samples Accepted
- DNA , Blood , Cultured Cells , CVS , Amniocyte
- Indications
- Carrier Cascade Testing , Diagnosis , Prenatal
- 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
Last Updated: June 23, 2025