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Diagnosis of Cornelia de Lange syndrome (Panel)

  • Service de Génétique Moléculaire
  • Hôpital Necker-Enfants Malades
  • 149 rue de Sèvres
  • 75743 PARIS
  • FRANCE
  • Director of laboratory : Pr Julie STEFFANN
  • More information
  • Phone : 33 (0)1 44 49 51 64
  • Additional Phone : 33 (0)1 44 38 15 07
  • Fax : 33 (0)1 71 19 64 20
  • Website
Last update: February 2019

Responsible of diagnostic test

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
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.