Orphanet: Molecular diagnosis of X linked Infantile Spasms syndrome EIEE2, CDKL5 gene: Molecular analysis through sequencing and dosage analysis

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Molecular diagnosis of X-linked Infantile Spasms syndrome (EIEE2, CDKL5 gene: Molecular analysis through sequencing and dosage analysis)

  • All Wales Genetics Laboratory
  • Institute of Medical Genetics
  • University Hospital of Wales
  • Cardiff & Vale University Local Health Board, Heath Park
  • Director of laboratory : Pr Rachel BUTLER
  • More information
  • Phone : 44 (0)2920 742 641
  • Additional Phone : -
  • Fax : 44 (0)29 2074 4043
  • Website
  • Contact
Last update: October 2017


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)
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