Orphanet: Diagnosi molecolare di cardiomiopatia aritmogena del ventricolo destro geni DSC2, DSG2, DSP, JUP, PKP2 e TMEM43
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Molecular diagnosis of arrhythmogenic right ventricular cardiomyopathy (DSC2, DSG2, DSP, JUP, PKP2 and TMEM43 gene)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 01/09/2017
  • S.O.D. Diagnostica Genetica
  • D.A.I. Laboratorio
  • Azienda Ospedaliero Universitaria Careggi
  • Largo Brambilla 3
  • 50134 FIRENZE
  • ITALY
  • Director of laboratory : Dr Elisabetta PELO
  • More information
  • Phone : 39 055 7949363
  • Additional Phone : 39 055 7949037
  • Fax : 39 055 7949686
  • Website
  • Contact
Last update: September 2017

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 diseases tested (1)
Arrhythmogenic right ventricular cardiomyopathy
List of genes tested (including panels) (6)
DSC2
DSG2
DSP
JUP
PKP2
TMEM43

Quality management

EQA  EQA

EQA scheme(s) organized by EMQN

Cardiac genetics - arrhythmias
2019
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