Orphanet: Molecular diagnosis of Severe myoclonic epilepsy of infancy, Dravet syndrome SCN1A gene, SCN1A dosage
x

Search for a diagnostic test

* (*) mandatory field

Molecular diagnosis of Severe myoclonic epilepsy of infancy, Dravet syndrome (SCN1A gene, SCN1A dosage)

  • Molecular laboratory, Department of Medical Genetics
  • Center of Medical Genetics
  • Centrum Medische Genetica - UZA
  • Prins Boudewijnlaan 43 Bus 6
  • 2650 ANTWERPEN-EDEGEM
  • BELGIUM
  • Director of laboratory : Pr Wim WUYTS
  • More information
  • Phone : +32 (0)3 275 97 74
  • Additional Phone : -
  • Fax : -
  • Website
Last update: May 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

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

Additional information

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.