Orphanet: Diagnosi molecolare postnatale dell_epilessia generalizzata con crisi febbrili GEFS analisi dei geni GABRG2, SCN1A e SCN1B mediante sequenziamento di esoni selezionati e MLPA
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Postnatal molecular diagnosis of generalized epilepsy with febrile seizures - GEFS+ (GABRG2, SCN1A and SCN1B genes determined by sequence analysis of selected exons and MLPA)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 23/10/2015
  • Laboratorio di Neurogenetica
  • Clinica di Neurologia Pediatrica
  • Azienda Ospedaliera Universitaria Anna Meyer
  • Viale Pieraccini 24
  • 50139 FIRENZE
  • ITALY
  • Director of laboratory : Pr Renzo GUERRINI
  • More information
  • Phone : 39 055 5662844
  • Additional Phone : 39 055 5662573
  • Fax : 39 055 5662329
  • Website
Last update: October 2015

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
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MLPA based techniques

List of diseases and genes

List of genes tested (including panels) (3)
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