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Diagnosis of genetic cardiac disease

Laboratoire de Génétique Constitutionnelle
CHU Amiens-Picardie - Site Sud
1 Rond Point du Professeur Christian Cabrol
80054 AMIENS CEDEX 1
FRANCE
Director of laboratory : Pr Loïc GARÇON
More information

Phone : 33 (0)3 22 08 73 60
Additional Phone : -
Fax : 33 (0)3 22 08 73 72

Last update: April 2023

Responsible of diagnostic test

Pr Loïc GARÇON

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 (35)

ATTRV122I amyloidosis

ATTRV30M amyloidosis

Andersen-Tawil syndrome

Atrial septal defect-atrioventricular conduction defects syndrome

Atrial standstill

Brugada syndrome

Carvajal syndrome

Catecholaminergic polymorphic ventricular tachycardia

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Ebstein malformation of the tricuspid valve

Familial atrial fibrillation

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

Noonan syndrome

Noonan syndrome with multiple lentigines

Romano-Ward syndrome

Sensorineural deafness with dilated cardiomyopathy

Sinoatrial node dysfunction and deafness

Timothy syndrome

List of genes tested (including panels) (126)

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.