Orphanet: Diagnostic de la mort subite cardiaque Panel

x

Share
Share

Search for a diagnostic test

Diagnosis of sudden cardiac death (Panel)

Laboratoire Cardiogénétique - Troubles du rythme et cardiomyopathies
Centre de Biologie et Pathologie Est
CHU de Lyon HCL - GH Est
59 Boulevard Pinel
69677 BRON CEDEX
FRANCE
Director of laboratory : Dr Gilles MILLAT
More information

Phone : 33 (0)4 72 12 95 01
Additional Phone : -
Fax : -

Last update: July 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Targeted mutation analysis

PCR based techniques

Sequence analysis: entire coding region

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (30)

ATTRV122I 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

Familial atrial fibrillation

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

Left ventricular noncompaction

Noonan syndrome

Noonan syndrome with multiple lentigines

Romano-Ward syndrome

Timothy syndrome

List of genes tested (including panels) (104)

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.