Orphanet: Diagn�stico de la encefalopat�a epil�ptica ligada a ARX gen ARX
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Diagnosis of ARX-related epileptic encephalopathy (ARX gene)

  • Unidad de Diagnostico Molecular y Gentica Clinica
  • Hospital Universitario Son Espases
  • Carretera de Valdemossa, 79
  • 07120 PALMA DE MALLORCA
  • SPAIN
  • Director of laboratory : Dr Iciar MARTNEZ LPEZ
  • More information
  • Phone : 34 871205000
  • Additional Phone : -
  • Fax : -
  • Website
Last update: February 2020

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques
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