The Dilated and Arrhythmogenic Cardiomyopathy NGS Panel is a 65-gene panel intended for patients with a diagnosis or clinical suspicion of an inherited cardiac disorder.
Agenesis of corpus callosum\, cardiac\, ocular\, and genital syndrome, Amyloidosis, Arrhythmogenic cardiomyopathy, Arrhythmogenic right ventricular dysplasia, Atrial septal defect, Barth syndrome, Brugada syndrome, Cardiac conduction disease, Catecholaminergic polymorphic ventricular tachycardia, Danon disease, Dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy, Fabry disease, Hypertrophic cardiomyopathy, Idiopathic dilated cardiomyopathy, Laing distal myopathy, Left ventricular noncompaction, LEOPARD syndrome, Limb-girdle muscular dystrophy, Long QT syndrome, Noonan syndrome, Restrictive cardiomyopathy, Scapuloperoneal myopathy, Sick sinus syndrome, Sudden cardiac failure, Wolff-Parkinson-White syndrome
Familial dilated cardiomyopathy (DCM) is associated with thinning of cardiac muscle, resulting in enlargement of the affected chamber(s). Reduced efficiency of cardiac blood flow causes progressive thinning which, untreated, may result in heart failure. Onset of symptoms typically occurs in adulthood, and these include arrhythmia, dyspnea, extreme fatigue, exercise intolerance, syncope, and swelling of the lower extremities. In some cases, sudden cardiac death in an undiagnosed or asymptomatic individual can occur.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) occurs when right ventricular tissue breaks down and is replaced by fat and scar tissue. Heart palpitations, syncope, and swelling of the legs can occur. In addition, cardiac arrest may be triggered by exercise, so sudden death in young athletes has been reported with this condition. Disease presentation is highly variable, even within families.
Treatments include pharmocologic therapies, implanted defibrillators, and in severe cases, heart transplant. While some types demonstrate autosomal recessive or X-linked inheritance, most forms are inherited in an autosomal dominant pattern. This panel consists of 51 genes that are associated with these conditions.
This panel is performed by Next Generation Sequencing and covers the coding regions of the listed genes and the flanking intronic sequences. Promoter, 3′ untranslated sequences, and deep intronic sequences are also covered, but only known disease-causing variants in these regions will be reported. Variants identified on the panel are confirmed with Sanger sequencing if they do not meet certain quality thresholds.
Large deletions and duplications (CNVs) affecting the genes of the panel can be detected; however, due to defined settings in the analysis software, CNVs smaller than 2-kb may not be identified (for example, some small exonic level copy number changes may not be identified). Please note that certain types of genetic alterations including trinucleotide repeat expansions, methylation abnormalities, and balanced rearrangements (e.g., inversions, reciprocal translocations) may not be detected by the current analysis.
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC