Orphanet: Diagnostic du syndrome d_ataxie c�r�belleuse autosomique dominante �pilepsie d�ficience intellectuelle par d�ficit de WWOX g�ne WWOX

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Diagnosis of autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency (WWOX gene)

  • Laboratoire de gntique mdicale
  • Service de cytogntique et gntique molculaire
  • CHU de Nancy - Hpitaux de Brabois
  • Rue du Morvan
  • Director of laboratory : Dr Cline BONNET
  • More information
  • Phone : 33 (0)3 83 15 37 71
  • Additional Phone : -
  • Fax : 33 (0)3 83 15 37 72
  • Contact
Last update: February 2019

Responsible of diagnostic test


Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of genes tested (including panels) (1)
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