Orphanet: Diagnostik der infantilen epileptischen Enzephalopathie Gene: AARS, ARX, CDKL5
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Diagnosis of early infantile epileptic encephalopathy (AARS, ARX, CDKL5 genes)

  • Gemeinschaftspraxis für Humangenetik Dres. Bier, Krüger und Reif
  • Gemeinschaftspraxis für Humangenetik
  • Gutenbergstr. 5
  • 01307 DRESDEN
  • GERMANY
  • Director of laboratory : Dr Stefan KRUEGER
  • More information
  • Phone : 49 (0)351 44 66 340
  • Additional Phone : -
  • Fax : 49 (0)351 44 66 3415
  • Website
  • Contact
Last update: July 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

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.