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Diagnosis of rare movement disorders (gene panel)

Centrum Medische Genetica Gent / Centre for Medical Genetics Ghent
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
C. Heymanslaan, 10 (Laboratorium: ingang 34; Polikliniek: ingang 81)
9000 GENT
BELGIUM
Director of laboratory : Pr Bruce POPPE
More information

Phone : +32 (0)9 332 36 03
Additional Phone : -
Fax : +32 (0)9 332 49 70
Website
Contact
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Last update: June 2020

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (66)

ATP13A2-related juvenile neuronal ceroid lipofuscinosis

Aceruloplasminemia

Adult-onset cervical dystonia, DYT23 type

Adult-onset dystonia-parkinsonism

Ataxia-oculomotor apraxia type 4

Ataxia-telangiectasia variant

Atypical Rett syndrome

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 cerebellar ataxia-movement disorder syndrome

Autosomal recessive dopa-responsive dystonia

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 benign chorea with striatal involvement

Choreoacanthocytosis

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

Classic pantothenate kinase-associated neurodegeneration

Cranio-cervical dystonia with laryngeal and upper-limb involvement

Developmental malformations-deafness-dystonia syndrome

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Dystonia-parkinsonism-hypermanganesemia syndrome

Early-onset generalized limb-onset dystonia

Early-onset parkinsonism-intellectual disability syndrome

Familial congenital mirror movements

Familial dyskinesia and facial myokymia

Familial infantile bilateral striatal necrosis

Fatty acid hydroxylase-associated neurodegeneration

Hereditary late-onset Parkinson disease

Infantile convulsions and choreoathetosis

Infantile dystonia-parkinsonism

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Infantile neuroaxonal dystrophy

Infantile-onset generalized dyskinesia with orofacial involvement

Kufor-Rakeb 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

Primary dystonia, DYT2 type

Primary dystonia, DYT27 type

Primary dystonia, DYT4 type

Primary dystonia, DYT6 type

Proximal myopathy with extrapyramidal signs

Rapid-onset dystonia-parkinsonism

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Woodhouse-Sakati syndrome

X-linked dystonia-parkinsonism

Young-onset Parkinson disease

List of genes tested (including panels) (127)

Additional information

Description of the activity

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.