Orphanet: Diagnostic des anomalies du d�veloppement et de la d�ficience intellectuelle Whole exome
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Diagnosis of developmental abnormalities and intellectual disability (Whole exome)

  • Phone : 33 (0)2 32 88 88 58
  • Additional Phone : -
  • Fax : 33 (0)2 32 88 80 80
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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 (1172)
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.