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Diagnosis of rare genetic intellectual disability

  • Servicio de Diagnstico Gentico
  • rea de Gentica Humana. Instituto de Investigacin en Enfermedades Raras
  • Instituto de Salud Carlos III. Campus de Majadahonda
  • Carretera Majadahonda-Pozuelo, km 2,2
  • 28220 MAJADAHONDA
  • SPAIN
  • Director of laboratory : Dr Beatriz MARTINEZ DELGADO
  • More information
  • Phone : 34 918223152
  • Additional Phone : 34 918223101
  • Fax : 34 918223269
  • Website
Last update: September 2017

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 (450)
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.