Orphanet: Diagn�stico molecular del s�ndrome de Dravet genes PCDH19 y SCN1A detecci�n de mutaciones y secuenciaci�n: exones seleccionados y regi�n codificante completa, MLPA genes GABRG2, SCN1B, SCN2A y SCN9A detecci�n de mutaciones y secuenciaci�n: exones seleccionados y regi�n codificante completa
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Molecular diagnosis of Dravet syndrome (PCDH19 and SCN1A genes / mutation scanning and sequence analysis: select exons and entire coding region, MLPA; GABRG2, SCN1B, SCN2A and SCN9A genes / mutation scanning and sequence analysis: select exons and entire coding region)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 07/05/2015
  • Phone : 34 917277217
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Last update: May 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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Sequence analysis: entire coding region
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MLPA based techniques

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (6)

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.