Orphanet: Diagnostic des anomalies du d�veloppement Whole exome
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Diagnosis of developmental abnormalities (Whole exome)

  • Laboratoire de gntique Biologique
  • Service de gntique
  • CHU de Poitiers
  • 2 Rue de la Miltrie - CS 90577
  • 86000 POITIERS
  • FRANCE
  • Director of laboratory : Dr Frdric BILAN
  • More information
  • Phone : 33 (0)5 49 45 49 71
  • Additional Phone : -
  • Fax : 33 (0)5 49 45 49 72
  • Website
  • Contact
Last update: February 2020

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Whole Exome Sequencing (WES)

List of diseases and genes

List of diseases tested (1005)
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