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Diagnosis of rare cardiac disease (panel)

Laboratorio de Genética
Hospital Universitario Central de Asturias
Avenida de Roma, s/n
33011 OVIEDO
SPAIN
Director of laboratory : Dr Maria Victoria ALVAREZ MARTINEZ
More information

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

Dr Eliecer COTO GARCÍA

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)

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 arrhythmogenic ventricular dysplasia, biventricular form

Familial isolated arrhythmogenic ventricular dysplasia, left dominant form

Familial isolated arrhythmogenic ventricular dysplasia, right dominant form

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

Jervell and Lange-Nielsen syndrome

LMNA-related cardiocutaneous progeria syndrome

Left ventricular noncompaction

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

List of genes tested (including panels) (186)

Quality management

EQA

EQA scheme(s) organized by EMQN

Cardiac genetics - Hypertrophic cardiomyopathies

2018, 2019

Cardiac genetics - arrthymias

2019

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