Orphanet: Diagn�stico de enfermedades card�acas raras panel

Search for a diagnostic test

* (*) mandatory field

Diagnosis of rare cardiac disease (panel)

  • Phone : 34 985 10 61 00 ext 37482
  • Additional Phone : -
  • Fax : 34 985 27 36 57
  • Website
Last update: March 2020

Responsible of diagnostic test


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 (39)

Quality management


EQA scheme(s) organized by EMQN

Cardiac genetics - Hypertrophic cardiomyopathies
2018, 2019
Cardiac genetics - arrthymias
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.