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Diagnosis of rare genetic intellectual disability

Despite our efforts to ensure that data is up to date, this activity has not been validated since 20/09/2017
  • Unidad de Genmica Funcional (Tumores Slidos Infantiles)
  • Instituto de Investigacin de 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 918223217
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
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 (441)
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.