Orphanet: Diagnostik der benignen famili�ren infantilen Anf�lle mit Choreoathetosis PRRT2 Gen: Sequenzierung

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Diagnosis of familial infantile convulsions with paroxysmal choreoathetosis (PRRT2 gene: sequencing)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 30/01/2012
  • Phone : 49 (0)89 3090 8860
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  • Fax : 49 (0)89 3090 8866
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Last update: January 2012

Responsible of diagnostic test


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
MLPA based techniques
Deletion / Duplication analysis
NGS sequencing (except WES)

List of diseases and genes

List of genes tested (including panels) (1)

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.