Orphanet: Diagn��stico de displasia ventricular arritmog��nica isolada familiar, com predomin��ncia �� direita dominante e recessiva painel NGS para os genes DSC2, DSG2, DSP, JUP, PKP2, RYR2, TMEM43
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Diagnosis of familial isolated arrhythmogenic ventricular dysplasia, right dominant form (NGS panel for DSC2, DSG2, DSP, JUP, PKP2, RYR2, TMEM43 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 11/07/2014
  • CGC Genetics / Centro de Gentica Clnica
  • CGC Genetics / Centro de Gentica Clnica
  • Rua de S da Bandeira 706, 1
  • 4000-432 PORTO
  • PORTUGAL
  • Director of laboratory : Dr Jorge PINTO BASTO
  • More information
  • Phone : 351 223 389 900
  • Additional Phone : -
  • Fax : 351 222 088 710
  • Website
  • Contact
Last update: July 2014

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of genes tested (including panels) (7)

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.