Orphanet: Diagn�stico molecular da doen�a de epilepsia generalizada com convuls�es febris, plus, GEFS tipo 1, 2, 3, 5 e 7 genes SCN1B, SCN1A, GABRG2, GABRD e SCN9 por sequencia��o de toda a regi�o codificante para todos os genes e pesquisa de grandes rearranjos por MLPApara o gene SCN1A
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Molecular diagnosis of generalized epilepsy with febrile seizures-plus context disease, GEFS+ type 1, 2, 3, 5 and 7 (SCN1B, SCN1A, GABRG2, GABRD and SCN9A genes by sequencing of entire coding region for all genes and deletion/duplication analysis by MLPA for SCN1A gene)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 28/08/2014
  • Centro de Gentica Preditiva e Preventiva
  • Instituto de Biologia Molecular e Celular
  • Rua do Campo Alegre, 823
  • 4150-180 PORTO
  • PORTUGAL
  • Director of laboratory : Pr Jorge SEQUEIROS
  • More information
  • Phone : 351 226 074 942
  • Additional Phone : -
  • Fax : 351 226 002 923
  • Website
  • Contact
Last update: August 2014

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
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Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of genes tested (including panels) (5)

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.