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Mitochondrial Gene Panels
Test Information
- Title
-
Mitochondrial Gene Panels
- Category
- Mitochondrial
- Test Name (CMS Title)
-
Mitochondrial Genome
- Gene/Platform/Region List
-
APTX, COX1, COX2, COX3, CYTB, DGUOK, DNA2, FBXL4, GFER, MGME1, MPV17, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, OPA1, OPA3 (isoform A & B), POLG, POLG2, RRM2B, SLC25A4, SPG7 (isoform 1 & 2), SUCLA2, SUCLG1, TK2, TWNK (C10orf2), TYMP
- Test type
- Samples Accepted
- Blood, DNA, Muscle Tissue, Urine
- Indications
- Diagnosis, Carrier Cascade Testing
- Test Methodology
- Sequencing
- 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: November 14, 2025
