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Diagnosis of rare movement disorder (panel - 123 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 26/12/2018
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Last update: December 2018

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)

List of diseases and genes (Panel description)

List of diseases tested (67)
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
Aceruloplasminemia
Adult-onset cervical dystonia, DYT23 type
Adult-onset dystonia-parkinsonism
Atypical juvenile parkinsonism
Atypical pantothenate kinase-associated neurodegeneration
Autosomal dominant dopa-responsive dystonia
Autosomal dominant focal dystonia, DYT25 type
Autosomal dominant striatal neurodegeneration
Autosomal recessive dopa-responsive dystonia
Behavioral variant of frontotemporal dementia
Benign hereditary chorea
Benign paroxysmal torticollis of infancy
Beta-propeller protein-associated neurodegeneration
Bilateral striopallidodentate calcinosis
Brain-lung-thyroid syndrome
COASY protein-associated neurodegeneration
Childhood-onset basal ganglia degeneration syndrome
Childhood-onset benign chorea with striatal involvement
Choreoacanthocytosis
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Classic pantothenate kinase-associated neurodegeneration
Classic progressive supranuclear palsy syndrome
Cranio-cervical dystonia with laryngeal and upper-limb involvement
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Dystonia 16
Dystonia-parkinsonism-hypermanganesemia syndrome
Early-onset generalized limb-onset dystonia
Familial dyskinesia and facial myokymia
Familial infantile bilateral striatal necrosis
Fatty acid hydroxylase-associated neurodegeneration
Frontotemporal dementia with motor neuron disease
Hereditary hyperekplexia
Hereditary late-onset Parkinson disease
Huntington disease-like 1
Infantile convulsions and choreoathetosis
Infantile dystonia-parkinsonism
Infantile neuroaxonal dystrophy
Infantile-onset generalized dyskinesia with orofacial involvement
Inherited Creutzfeldt-Jakob disease
Kufor-Rakeb syndrome
MEPAN syndrome
McLeod neuroacanthocytosis syndrome
Mitochondrial membrane protein-associated neurodegeneration
Myoclonus-dystonia syndrome
Neuroferritinopathy
Parkinsonian-pyramidal syndrome
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Paroxysmal exertion-induced dyskinesia
Paroxysmal kinesigenic dyskinesia
Paroxysmal non-kinesigenic dyskinesia
Perry syndrome
Primary dystonia, DYT2 type
Primary dystonia, DYT27 type
Primary dystonia, DYT4 type
Primary dystonia, DYT6 type
Progressive non-fluent aphasia
Progressive supranuclear palsy-corticobasal syndrome
Progressive supranuclear palsy-parkinsonism syndrome
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
Rapid-onset dystonia-parkinsonism
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Wilson disease
Woodhouse-Sakati syndrome
X-linked parkinsonism-spasticity syndrome
Young-onset Parkinson disease
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