Orphanet: Molecular diagnosis of Familial Paroxysmal Kinesigenic Dyskinesia and Benign Familial Infantile convulsions With or Without Choreoathetosis ICCA by sequencing of the entire coding region PRRT2 gene
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Molecular diagnosis of Familial Paroxysmal Kinesigenic Dyskinesia and Benign Familial Infantile convulsions With or Without Choreoathetosis (ICCA) by sequencing of the entire coding region (PRRT2 gene)

  • Bristol Genetics Laboratory
  • Pathology Sciences
  • Southmead Hospital
  • Southmead Road, Westbury on Trym
  • BRISTOL BS10 5NB
  • UNITED KINGDOM
  • Director of laboratory : Pr Rachel BUTLER
  • More information
  • Phone : 44 (0)117 414 6168
  • Additional Phone : -
  • Fax : 44 (0)117 414 6464
  • Website
Last update: August 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of genes tested (including panels) (1)
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