Orphanet: Diagnostik des West Syndroms SCN2A Gen
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Diagnosis of West syndrome (SCN2A gene)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 04/05/2017
  • Institut für Humangenetik
  • Institut für Humangenetik am Universitätsklinikum Köln
  • Kerpener Str. 34
  • 50931 KÖLN
  • GERMANY
  • Director of laboratory : Pr Brunhilde WIRTH
  • More information
  • Phone : 49 (0)221 478 86464
  • Additional Phone : -
  • Fax : 49 (0)221 478 86465
  • Website
Last update: May 2017

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

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.