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Diagnosis of cardiac diseases (192 genes panel)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 30/10/2018

Reference Laboratory Genetics
Reference Laboratory Genetics
Calle Pablo Iglesias 57
08908 L'HOSPITALET DE LLOBREGAT
SPAIN
Director of laboratory : -
More information

Phone : 34 932593700
Additional Phone : -
Fax : -
Website
Contact
email

Last update: October 2018

Responsible of diagnostic test

Dr Jaime TORRENTS

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 (38)

ATTRV122I amyloidosis

Andersen-Tawil syndrome

Atrial septal defect-atrioventricular conduction defects syndrome

Atrial standstill

Autosomal dominant limb-girdle muscular dystrophy type 1A

Brugada syndrome

Cardiofaciocutaneous syndrome

Cardiomyopathy-hypotonia-lactic acidosis syndrome

Catecholaminergic polymorphic ventricular tachycardia

Combined oxidative phosphorylation defect type 17

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Costello syndrome

Dilated cardiomyopathy with ataxia

Ebstein malformation of the tricuspid valve

Familial atrial fibrillation

Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease

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

Idiopathic ventricular fibrillation, non Brugada type

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

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

Left ventricular noncompaction

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Noonan syndrome

Noonan syndrome with multiple lentigines

Noonan syndrome-like disorder with loose anagen hair

Romano-Ward syndrome

Sensorineural deafness with dilated cardiomyopathy

Timothy syndrome

List of genes tested (including panels) (192)

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.