Orphanet: Diagnostic du syndrome de Brooke Spiegler g�ne CYLD
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Diagnosis of Brooke-Spiegler syndrome (CYLD gene)

  • Dpartement de Gntique
  • CHU Paris Nord-Val de Seine - Hpital Xavier Bichat-Claude Bernard
  • 46 rue Henri Huchard
  • 75018 PARIS
  • FRANCE
  • Director of laboratory : Pr Catherine BOILEAU
  • More information
  • Phone : 33 (0)1 40 25 85 45
  • Additional Phone : 33 (0)1 40 25 88 51
  • Fax : 33 (0)1 40 25 88 71
  • Contact
Last update: February 2020

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
NGS sequencing (except WES)
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)

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.