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Diagnosis of cardiac rhythm diseases (Panel)

  • UF de cardiogénétique et myogénétique moléculaire et cellulaire
  • Centre de génétique moléculaire et chromosomique
  • AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
  • 47-83 boulevard de l'Hôpital
  • 75013 PARIS
  • FRANCE
  • Director of laboratory : Dr Pascale A RICHARD
  • More information
  • Phone : 33 (0)1 42 17 76 64
  • Additional Phone : -
  • Fax : 33 (0)1 42 17 76 18
  • Website
  • Contact
Last update: June 2022

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques
Deletion / Duplication analysis
NGS sequencing (except WES)
Deletion / Duplication analysis
PCR based techniques
Gene panel test
Targeted gene test

List of diseases and genes (Panel description)

List of diseases tested (17)
Andersen-Tawil syndrome
Brugada syndrome
Carvajal syndrome
Catecholaminergic polymorphic ventricular tachycardia
Familial atrial fibrillation
Familial long QT syndrome
Familial progressive cardiac conduction defect
Familial short QT syndrome
Familial sick sinus syndrome
Idiopathic ventricular fibrillation, non Brugada type
Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
Jervell and Lange-Nielsen syndrome
Naxos disease
Romano-Ward syndrome
Timothy syndrome

Quality management

EQA  EQA

EQA scheme(s) organized by EMQN

Cardiac genetics - arrhythmias
2021
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.