Orphanet: Diagn�stico del s�ndrome de Dravet gen SCN1A
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Diagnosis of Dravet syndrome (SCN1A gene)

  • Phone : 34 961 366 150
  • Additional Phone : -
  • Fax : 34 961 366 151
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Last update: November 2017

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
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) (1)
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.