NGS Panels Germline search all

Displaying 1,001 - 1,025 of 14,509

MT-CO1

Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiency, Deafness, mitochondrial

Mitochondrial

MT-CO2

Cytochrome c oxidase deficiency

Mitochondrial

MT-CO3

Cytochrome c oxidase deficiency, Leber hereditary optic neuropathy

Mitochondrial

MT-CYB

Mitochondrial

MT-ND1

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia

Mitochondrial

MT-ND2

Leber hereditary optic neuropathy, Mitochondrial complex I deficiency

Mitochondrial

MT-ND3

Leber optic atrophy and dystonia, Mitochondrial complex I deficiency

Mitochondrial

MT-ND4

Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency

Mitochondrial

MT-ND4L

Leber hereditary optic neuropathy

Mitochondrial

MT-ND5

Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiency

Mitochondrial

MT-ND6

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency

Mitochondrial

MT-RNR1

Deafness, mitochondrial

Mitochondrial

MT-RNR2

Chloramphenicol toxicity/resistance

Mitochondrial

MT-TA

Mitochondrial

MT-TC

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

Mitochondrial

MT-TD

Mitochondrial

MT-TE

Diabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetes

Mitochondrial

MT-TF

Myoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes

Mitochondrial

MT-TG

Mitochondrial

MT-TH

Mitochondrial

MT-TI

Mitochondrial

MT-TK

Myoclonic epilepsy with ragged red fibers, Leigh syndrome

Mitochondrial

MT-TL1

Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility to

Mitochondrial

MT-TL2

Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Mitochondrial Myopathy, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes

Mitochondrial

MT-TM

Leigh syndrome, Mitochondrial multisystemic disorder

Mitochondrial

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