Orphanet: Badanie molekularne w kierunku zespolu Dravet i padaczki uogolnionej z drgawkami goraczkowymi plus gen SCN1A
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Molecular diagnosis of Dravet syndrome and generalized epilepsy with febrile seizures-plus context (SCN1A gene)

  • Zespol Pracowni Genetyki Molekularnej
  • Zaklad Gentyki Medycznej
  • Instytut Matki i Dziecka
  • Kasprzaka 17a
  • 01-211 WARSZAWA
  • POLAND
  • Director of laboratory : Pr Jerzy BAL
  • More information
  • Phone : 48 22 32 77 361
  • Additional Phone : 48 22 32 77 152
  • Fax : 48 22 32 77 361
  • Website
  • Contact
Last update: September 2017

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 genes tested (including panels) (1)
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