List of diseases covered by Dystonia NGS panel

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
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

Expanded Dystonia Panel

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/

Dystonia NGS panel

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, PANK2, PLA2G6, PNKD, PRKN (PARK2), PRKRA, PRRT2, RELN, SGCE, SLC2A1, SLC6A3, SLC25A1, SLC30A10, SLC39A14, SPR, TAF1, TBCE, TH, THAP1, TIMM8A, TOR1A, TUBB4A

List of diseases covered by the panel


Price / TAT: 1314 EUR / 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
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: ATP1A3, GCH1, PRKRA, SGCE, TH, THAP1, TOR1A

Lab method: MLPA

Price / TAT: 710 EUR / 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
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


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.