Orphanet: Diagnostic des troubles du neurod���veloppement et syndromes malformatifs Whole exome
x

Search for a diagnostic test

* (*) mandatory field

Diagnosis of neurodevelopmental disorders and malformation syndromes (Whole exome)

  • Laboratoire de génétique constitutionnelle prénatale et postnatale
  • Service de biologie médicale
  • CH de Versailles - Hôpital André Mignot
  • 177 Rue de Versailles
  • 78157 LE CHESNAY CEDEX
  • FRANCE
  • Director of laboratory : Dr Benjamin MANEGLIER
  • More information
  • Phone : 33 (0)1 39 63 80 13
  • Additional Phone : 33 (0)1 39 63 80 14
  • Fax : 33 (0)1 39 63 80 12
  • Contact
Last update: July 2022

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 (3)
Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
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.