Orphanet: Diagnostic de la chondrodysplasie ponctu�e brachyt�l�phalangique g�ne ARSE
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Diagnosis of brachytelephalangic chondrodysplasia punctata (ARSE gene)

  • Service de génétique clinique chromosomique et moléculaire
  • Pôle de biologie
  • CHU de Saint-Etienne - Hôpital Nord
  • Avenue Albert Raimond
  • 42270 SAINT-PRIEST-EN-JAREZ
  • FRANCE
  • Director of laboratory : Dr Renaud L TOURAINE
  • More information
  • Phone : 33 (0)4 77 82 81 16
  • Additional Phone : -
  • Fax : 33 (0)4 77 82 82 59
  • Website
  • Contact
Last update: February 2020

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing

List of diseases and genes

List of diseases tested (1)
Brachytelephalangic chondrodysplasia punctata
List of genes tested (including panels) (1)
ARSE
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