Orphanet: Diagnostik von seltenen genetischen Epilepsien Exom Sequenzierung
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Diagnosis of rare genetic epilepsy (Whole exome sequencing)

  • Labor Ingelheim mit Zentrum für Humangenetik
  • Bioscientia Institut für Medizinische Diagnostik GmbH
  • Konrad Adenauer Strasse 17
  • 55218 INGELHEIM AM RHEIN
  • GERMANY
  • Director of laboratory : Dr Mojgan DRASDO
  • More information
  • Phone : 49 (0)6132 781 411
  • Additional Phone : -
  • Fax : 49 (0)6132 781 194
  • Website
  • Contact
Last update: August 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis
Risk assessment

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Whole Exome Sequencing (WES)

List of diseases and genes

List of diseases tested (189)

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.