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Diagnosis of Cornelia de Lange syndrome (Panel)

  • Laboratoire de génétique moléculaire
  • Service de génétique
  • CHU de Rouen
  • 1 Rue de Germont
  • 76031 ROUEN CEDEX
  • FRANCE
  • Director of laboratory : Pr Thierry FREBOURG
  • More information
  • Phone : 33 (0)2 32 88 88 58
  • Additional Phone : -
  • Fax : 33 (0)2 32 88 80 80
  • Website
  • Contact
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques
Deletion / Duplication analysis
NGS sequencing (except WES)
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