Mitochondrial diseases are genetic conditions that occur when mitochondria are failing to produce enough energy for the cell. Genetic mutations in the mitochondrial genome, or nuclear genes encoding proteins functional inside mitochondria, are causing developmental, neurological, muscular and cognitive disabilities with symptoms including poor growth, loss of muscle coordination, muscle weakness and pain, seizures, vision and/or hearing loss, gastrointestinal issues, learning disabilities and organ failure. Mitochondrial diseases are estimated to affect 1 in 4,000 people.

Covers all mitochondrial encoded genes (≥97.0% targeted regions covered at ≥200x). Includes NGS-based copy number variation analysis. ≥ 15.0 % mitochondrial heteroplasmy can be confidently detected; CNV analysis included
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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