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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
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Last update: October 2018

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 (Panel description)

List of diseases tested (65)
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 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
Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
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
Naxos disease
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 ambiguus
Situs inversus totalis
Supravalvular aortic stenosis
Timothy syndrome
Vascular Ehlers-Danlos syndrome
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.