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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
  • Director of laboratory : Dr Beatriz MARTINEZ DELGADO
  • More information
  • Phone : 34 918223152
  • Additional Phone : 34 918223101
  • Fax : 34 918223269
  • Website
Last update: September 2017


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)
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