List of diseases covered by
Dystonia NGS panel
| Gene | Condition |
| ACTB | Dystonia, juvenile-onset; Baraitser-Winter syndrome 1 |
| ADCY5 | Dyskinesia, familial, with facial myokymia |
| ANO3 | Dystonia 24 |
| ARSA | Metachromatic leukodystrophy |
| ATM | Ataxia-telangiectasia |
| ATP1A3 | Dystonia-12; Alternating hemiplegia of childhood 2; CAPOS syndrome |
| ATP7B | Wilson disease |
| CACNA1B | Dystonia 23 |
| COL6A3 | Dystonia 27; Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 |
| GCDH | Glutaricaciduria, type I |
| GCH1 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia; Hyperphenylalaninemia, BH4-deficient, B |
| GNAL | Dystonia 25 |
| GNAO1 | Neurodevelopmental disorder with involuntary movements; Epileptic encephalopathy, early infantile, 17 |
| HPCA | Dystonia 2, torsion, autosomal recessive |
| KCNMA1 | Cerebellar atrophy, developmental delay, and seizures; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy |
| KCTD17 | Dystonia 26, myoclonic |
| KMT2B | Dystonia 28, childhood-onset |
| MECR | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities |
| PANK2 | HARP syndrome; Neurodegeneration with brain iron accumulation 1 |
| PLA2G6 | Infantile neuroaxonal dystrophy 1; Neurodegeneration with brain iron accumulation 2B; Parkinson disease 14, autosomal recessive |
| PNKD | Paroxysmal nonkinesigenic dyskinesia 1 |
| PRKN | Parkinson disease, juvenile, type 2 |
| PRKRA | Dystonia 16 |
| PRRT2 | Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2 |
| RELN | Lissencephaly 2 (Norman-Roberts type); Epilepsy, familial temporal lobe, 7 |
| SGCE | Dystonia-11, myoclonic |
| SLC2A1 | Dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 deficiency syndrome 2, childhood onset; Stomatin-deficient cryohydrocytosis with neurologic defects; Epilepsy, idiopathic generalized, susceptibility to, 12 |
| SLC6A3 | Parkinsonism-dystonia, infantile |
| SLC25A1 | Combined D-2- and L-2-hydroxyglutaric aciduria |
| SLC30A10 | Hypermanganesemia with dystonia 1 |
| SLC39A14 | Hypermanganesemia with dystonia 2 |
| SPR | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency |
| TAF1 | Dystonia-Parkinsonism, X-linked; Mental retardation, X-linked, syndromic 33 |
| TBCE | Encephalopathy, progressive, with amyotrophy and optic atrophy; Hypoparathyroidism-retardation-dysmorphism syndrome; Kenny-Caffey syndrome, type 1 |
| TH | Segawa syndrome, recessive |
| THAP1 | Dystonia 6, torsion |
| TIMM8A | Mohr-Tranebjaerg syndrome |
| TOR1A | Dystonia-1, torsion |
| TUBB4A | Dystonia 4, torsion, autosomal dominant; Leukodystrophy, hypomyelinating, 6 |