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

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 (39)

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

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