Orphanet: Molecular diagnosis of infantile convulsions and choreoathetosis PRRT2 gene
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Molecular diagnosis of infantile convulsions and choreoathetosis (PRRT2 gene)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 10/06/2016
  • Phone : 45 66 11 66 28
  • Additional Phone : -
  • Fax : 45 66 11 66 78
  • Website
Last update: June 2016

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (1)
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.