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Diagnosis of rare cardiac disease (panel)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 27/03/2020
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  • Website
Last update: March 2020

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes (Panel description)

List of diseases tested (39)
ATTRV122I amyloidosis
Andersen-Tawil syndrome
Atrial septal defect-atrioventricular conduction defects syndrome
Atrial standstill
Brugada syndrome
Cardiofaciocutaneous syndrome
Carvajal syndrome
Catecholaminergic polymorphic ventricular tachycardia
Costello syndrome
Dilated cardiomyopathy with ataxia
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Familial atrial fibrillation
Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated dilated cardiomyopathy
Familial isolated restrictive cardiomyopathy
Familial progressive cardiac conduction defect
Familial short QT syndrome
Familial sick sinus syndrome
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Glycogen storage disease due to LAMP-2 deficiency
Heart-hand syndrome, Slovenian type
Holt-Oram 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
LMNA-related cardiocutaneous progeria syndrome
Left ventricular noncompaction
Naxos disease
Noonan syndrome
Noonan syndrome with multiple lentigines
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with loose anagen hair
Romano-Ward syndrome
Sensorineural deafness with dilated cardiomyopathy
Sinoatrial node dysfunction and deafness
Timothy syndrome

Quality management

EQA  EQA

EQA scheme(s) organized by EMQN

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