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Diagnosis of cardiac disease (panel)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 01/10/2018

Laboratorio de Genética
Servicio de Diagnóstico Biomédico
Hospital San Pedro
Calle Piqueras, 98
26006 LOGROÑO
SPAIN
Director of laboratory : Dr Fernando IGUAZ PASCUAL
More information

Phone : 34 941298264
Additional Phone : -
Fax : 34 941298764
Website

Last update: October 2018

Responsible of diagnostic test

Dr Fernando IGUAZ PASCUAL

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

NGS sequencing (except WES)

Deletion / Duplication analysis

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (66)

ATTRV122I amyloidosis

Andersen-Tawil syndrome

Aneurysm-osteoarthritis syndrome

Arterial tortuosity syndrome

Atrial septal defect, ostium secundum type

Atrial septal defect-atrioventricular conduction defects syndrome

Atrial standstill

Autosomal recessive cutis laxa type 1

Brugada syndrome

Cardiofaciocutaneous syndrome

Carvajal syndrome

Catecholaminergic polymorphic ventricular tachycardia

Complete atrioventricular septal defect with ventricular hypoplasia

Complete atrioventricular septal defect-tetralogy of Fallot

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Costello syndrome

Dilated cardiomyopathy with ataxia

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Ebstein malformation of the tricuspid valve

Familial abdominal aortic aneurysm

Familial aortic dissection

Familial atrial fibrillation

Familial atrial myxoma

Familial bicuspid aortic valve

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

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

Hereditary hemorrhagic telangiectasia

Holt-Oram syndrome

Hypoplastic left heart syndrome

Idiopathic ventricular fibrillation, non Brugada type

Isolated congenitally uncorrected transposition of the great arteries

Jervell and Lange-Nielsen syndrome

LMNA-related cardiocutaneous progeria syndrome

Left ventricular noncompaction

Lethal arteriopathy syndrome due to fibulin-4 deficiency

Loeys-Dietz syndrome

Marfan syndrome type 1

Marfan syndrome type 2

Multisystemic smooth muscle dysfunction syndrome

NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy

Neonatal Marfan syndrome

Noonan syndrome

Noonan syndrome with multiple lentigines

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Noonan syndrome-like disorder with loose anagen hair

Partial atrioventricular septal defect

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

Romano-Ward syndrome

Sensorineural deafness with dilated cardiomyopathy

Situs inversus totalis

Supravalvular aortic stenosis

Timothy syndrome

Vascular Ehlers-Danlos syndrome

List of genes tested (including panels) (174)

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