Orphanet: Diagn�stico de s�ndrome de Dravet genes SCN1A, SCN9A, STXBP1
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Diagnosis of Dravet syndrome (SCN1A, SCN9A, STXBP1 genes)

  • Centro de Diagnstico de Enfermedades Moleculares
  • Universidad Autnoma de Madrid. Facultad de Ciencias
  • Calle Francisco Toms y Valiente, 7
  • 28049 CANTOBLANCO
  • SPAIN
  • Director of laboratory : Pr Magdalena UGARTE PREZ
  • More information
  • Phone : 34 914974589
  • Additional Phone : 34 914974868
  • Fax : 34 914974863
  • Website
Last update: January 2019

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (3)
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.