Orphanet: Diagnóstico de desordenes relacionados con SCN1A SCN1A

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Diagnosis of SCN1A-related disorders (SCN1A)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 18/11/2016
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Last update: November 2016


Post-natal diagnosis

Technical procedure(s)

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