Download Restrictive Cardiomyopathy Panel

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