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Mitochondrial Genome Panel
Test Information
- Title
-
Mitochondrial Genome Panel
- Category
- Mitochondrial
- Test Name (CMS Title)
-
Mitochondrial Genome
- Gene/Platform/Region List
-
MD-CYB, 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-T2, 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
- Test type
- Samples Accepted
- Blood, DNA, Bone Marrow Aspirate, Dried Blood Spot
- Indications
- Diagnosis, 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
Last Updated: November 14, 2025
