Orphanet: Diagnostik der generalisierten Epilepsie mit Fieberkr�mpfen plus Gene: GABRD, GABRG2, SCN1A, SCN1B, SCN2A, STX1B
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Diagnosis of generalized epilepsy with febrile seizures plus (GABRD, GABRG2, SCN1A, SCN1B, SCN2A, STX1B genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 06/04/2017
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Last update: April 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
NGS sequencing (except WES)

List of diseases and genes

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.