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Diagnosis of ataxia (NGS screening panel, 92 genes)

Praxis am Kinderzentrum Dresden-Friedrichstadt
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Friedrichstrasse 38 - 40
01067 DRESDEN
GERMANY
Director of laboratory : -
More information

Phone : 49 (0)351 49278900
Additional Phone : -
Fax : 49 (0)351 492 78 895
Website
Contact
email

Last update: October 2020

Responsible of diagnostic test

Dr Birgit EICHHORN

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

Sanger sequencing

Sequence analysis: entire coding region

NGS sequencing (except WES)

Deletion / Duplication analysis

MLPA based techniques

List of diseases and genes

List of diseases tested (58)

Adult-onset autosomal recessive cerebellar ataxia

Ataxia-hypogonadism-choroidal dystrophy syndrome

Ataxia-oculomotor apraxia type 1

Ataxia-oculomotor apraxia type 4

Ataxia-telangiectasia

Ataxia-telangiectasia-like disorder

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

Autosomal recessive ataxia due to ubiquinone deficiency

Autosomal recessive ataxia, Beauce type

Autosomal recessive cerebellar ataxia due to STUB1 deficiency

Autosomal recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency

Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia with leukoencephalopathy

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Cerebellar ataxia-hypogonadism syndrome

Dysequilibrium syndrome

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

Episodic ataxia type 1

Episodic ataxia type 5

Episodic ataxia type 6

Familial paroxysmal ataxia

Friedreich ataxia

Joubert syndrome

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

Joubert syndrome with hepatic defect

Joubert syndrome with ocular defect

Joubert syndrome with oculorenal defect

Joubert syndrome with renal defect

Marinesco-Sjögren syndrome

Orofaciodigital syndrome type 6

Posterior column ataxia-retinitis pigmentosa syndrome

Recessive mitochondrial ataxia syndrome

Spectrin-associated autosomal recessive cerebellar ataxia

Spinocerebellar ataxia type 11

Spinocerebellar ataxia type 13

Spinocerebellar ataxia type 14

Spinocerebellar ataxia type 15/16

Spinocerebellar ataxia type 19/22

Spinocerebellar ataxia type 21

Spinocerebellar ataxia type 23

Spinocerebellar ataxia type 27

Spinocerebellar ataxia type 28

Spinocerebellar ataxia type 29

Spinocerebellar ataxia type 34

Spinocerebellar ataxia type 35

Spinocerebellar ataxia type 38

Spinocerebellar ataxia type 40

Spinocerebellar ataxia type 41

Spinocerebellar ataxia type 42

Spinocerebellar ataxia type 5

Spinocerebellar ataxia type 6

Spinocerebellar ataxia with axonal neuropathy type 1

Spinocerebellar ataxia with axonal neuropathy type 2

List of genes tested (including panels) (91)

Additional information

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.