| Gene | Non-coding variant |
| ATM | c.2639-384A>G |
| ATM | c.2839-579_2839-576del |
| ATM | c.5763-1050A>G |
| ATP7B | c.-439_-425del |
| ATP7B | c.-676A>G |
| SLC2A1 | c.680-11G>A |
| TH | c.1198-24T>A |
| TH | c.-70G>A |
| TH | c.-71C>T |
| TIMM8A | c.133-23A>C |
Dystonia and Spinocerebellar Ataxia panels are updated with MECR gene. Visit www.asperbio.com/asper-neurogenetics/ to learn more!
| 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 |
We have improved our Dystonia NGS panel with 29 genes, the new upgraded version now includes 39 genes related to different types of dystonia and syndromes with clinical features of dystonia. New genes added to the panel are associated with dystonia types 2, 3, 4, 11, 23, 24, 25, 26, 27, and disorders such as hypermanganesemia, glutaric aciduria, familial dyskinesia with facial myokymia, neurodegeneration with brain iron accumulation, and others. Full list of the genes covered by the panel is available https://www.asperbio.com/asper-neurogenetics/dystonia/dystonia-ngs-panel/
| Genes (full coding region): |
ACTB, ADCY5, ANO3, ARSA, ATM, ATP1A3, ATP7B, CACNA1B, CIZ1, COL6A3, DRD2, GCDH, GCH1, GNAL, GNAO1, HPCA, KCNMA1, KCTD17, KMT2B, MECR, PANK2, PLA2G6, PNKD, PRKN, PRKRA, PRRT2, RELN, SGCE, SLC2A1, SLC6A3, SLC25A1, SLC30A10, SLC39A14, SPR, TAF1, TBCE, TH, THAP1, TIMM8A, TOR1A, TUBB4A |
| Non-coding variants: | List of non-coding variants covered by the panel |
| Lab method: | NGS panel with CNV analysis |
| TAT: | 6-9 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
| Genes: | ATP1A3, GCH1, PRKRA, PRRT2, SGCE, TH, THAP1, TOR1A |
| Lab method: | MLPA |
| TAT: | 4-6 weeks |
| Specimen requirements: | 2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl |
| Ordering information: | Go to online ordering or download sample submission form |
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk relatives
3. Prenatal diagnosis for known familial mutation
4. Genetic counseling
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing repetitive movements and/or abnormal postures. Dystonic movements are typically patterned and twisting, affecting the neck, torso, limbs, eyes, face, vocal chords, and/or a combination of these muscle groups. The movements may be associated with tremor.
There are a number of different forms of dystonia, and many diseases are associated with the condition. Dystonia can be classified clinically and/or etiologically by anatomic changes (nervous system pathology) and causation (inherited, acquired, or idiopathic). Classifying dystonia by clinical features includes age of onset, body distribution, temporal pattern, and associated features.
Hereditary dystonias are usually inherited in an autosomal dominant manner and less commonly in an autosomal recessive or X-linked manner.
References:
Albanese A et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013;28:863–73.
Klein C et al. Dystonia Overview. GeneReviews® 2003 Oct 28 (Updated 2014 May 1).
Koc F and Yerdelen D. Metformin-induced paroxysmal dystonia. Neurosciences (Riyadh). 2008 Apr;13(2):194-5.