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
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  • Fax : 33 (0)2 32 88 80 80
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Last update: February 2020

Responsible of diagnostic test


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)
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