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Diagnosis of cardiovascular diseases (panel)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 02/04/2020

Servicio de Genética Clínica
Hospital Universitario Fundación Jiménez Díaz
Avenida Reyes Católicos, 2
28040 MADRID
SPAIN
Director of laboratory : -
More information

Phone : 34 915 50 48 72
Additional Phone : -
Fax : 34 915 44 87 35
Website

Last update: April 2020

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis

Pre-implantation diagnosis

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 (46)

ATTRV122I amyloidosis

Andersen-Tawil syndrome

Atrial septal defect-atrioventricular conduction defects syndrome

Atrial standstill

Brugada syndrome

Cardiofaciocutaneous syndrome

Carvajal syndrome

Catecholaminergic polymorphic ventricular tachycardia

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Costello syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Familial abdominal aortic aneurysm

Familial atrial fibrillation

Familial bicuspid aortic valve

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

Familial thoracic aortic aneurysm and aortic dissection

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

Left ventricular noncompaction

Loeys-Dietz syndrome

Marfan syndrome type 1

Marfan syndrome type 2

Multisystemic smooth muscle dysfunction syndrome

Neonatal Marfan syndrome

Noonan syndrome

Noonan syndrome with multiple lentigines

Noonan syndrome-like disorder with loose anagen hair

Periventricular nodular heterotopia

Romano-Ward syndrome

Sinoatrial node dysfunction and deafness

Timothy syndrome

Vascular Ehlers-Danlos syndrome

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

List of genes tested (including panels) (141)

Quality management

EQA

EQA scheme(s) organized by EMQN

Cardiac genetics - Hypertrophic cardiomyopathies

2018

Cardiac genetics - arrthymias

2018, 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.