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Test Information Sheet Restrictive Cardiomyopathy Panel Up to 10 genes The Restrictive Cardiomyopathy Panel is a comprehensive next-generation sequencing (NGS) panel that can be used to confirm a clinical diagnosis of restrictive cardiomyopathy or identify at-risk individuals. Restrictive cardiomyopathy is characterized by a stiffening of the heart muscle which causes blood in the heart to back up into the atria and lungs. Children affected with this condition can present with failure to thrive, fatigue, ascites, fainting, and lung congestion. Adults may present with fatigue, shortness of breath, and heart palpitations. In the absence of treatment, affected children and adults are at risk of death due to heart failure, which can occur suddenly, even in the absence of other symptoms. PREVALENCE The exact prevalence of restrictive cardiomyopathy is unknown, although it is considered to be a rare condition, accounting for only 2-5% of all cardiomyopathy seen in children (Russo et al, 2005). single exon. To request analysis of a specific single exon copy number variant, please contact our Client Services team prior to ordering. Analytical sensitivity of the assay is >99%. INHERITANCE AND PENETRANCE INCLUDED DISORDERS This panel includes genes associated with: • Restrictive cardiomyopathy • Dilated cardiomyopathy • Hypertrophic cardiomyopathy • Left ventricular noncompaction • Transthyretin (TTR) amyloidosis Restrictive cardiomyopathy is typically inherited in an autosomal dominant fashion and, similarly to other cardiomyopathy syndromes, may exhibit reduced penetrance. INDICATIONS FOR TESTING CLINICAL SENSITIVITY Disease causing mutations can be identified in approximately 35% of individuals with restrictive cardiomyopathy (Teekakirikul et al, 2013). The Restrictive Cardiomyopathy Panel includes all of common genetic causes related to this disease. • Confirmation of a clinical diagnosis • Unexplained cardiac arrest • Risk assessment for asymptomatic family of members of proband with molecular diagnosis of catecholaminergic polymorphic ventricular tachycardia METHODOLOGY AND ANALYTICAL SENSITIVITY Next-generation sequencing technology is used to test clinically relevant portions of each gene, including coding exons, adjacent intron/exon boundaries, and selected introns/noncoding variants. Pathogenic and likely pathogenic variants are confirmed by orthogonal methods. Copy number variants, including intragenic deletions and duplications are detected to a resolution of © Phosphorus 2017 www. phosphorus.com | 1-855-746-7423 | [email protected] 032017 RCTIS 1.0 INCLUDED GENES (8): ACTC1 BAG3 DES MYBPC3 MYH7 TNNI3 TNNT2 TTR ADDITIONS TO COMPREHENSIVE PANEL Emerging Evidence Genes (2): Emerging evidence genes can also be added on to the comprehensive panel. These genes do not have a clear association with restrictive cardiomyopathy, but emerging evidence suggests that they may play a role in disease pathogenicity: FLNC MYPN REFERENCES 1. Russo LM, Webber SA. Idiopathic restrictive cardiomyopathy in children. Heart. 2005;91(9):1199-202. 2. Teekakirikul P, Kelly MA, Rehm HL, Lakdawala NK, Funke BH. Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. J Mol Diagn. 2013;15(2):158-70. © Phosphorus 2017 www. phosphorus.com | 1-855-746-7423 | [email protected] 032017 RCTIS 1.0
