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Diagnosis of rare genetic developmental defect during embryogenesis (Whole exome)

  • UF de Gntique Molculaire
  • Service de Biochimie et Gntique Molculaire
  • Centre de Biologie
  • 58 Rue Montalembert
  • 63003 CLERMONT-FERRAND
  • FRANCE
  • Director of laboratory : Pr Isabelle CREVEAUX
  • More information
  • Phone : 33 (0)4 73 75 18 49
  • Additional Phone : -
  • Fax : 33 (0)4 73 75 44 32
  • Website
Last update: February 2021

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Sequence analysis: entire coding region
Whole Exome Sequencing (WES)

List of diseases and genes

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