Download Catecholaminergic Polymorphic Ventricular Tachycardia Panel

Test Information Sheet
Catecholaminergic Polymorphic
Ventricular Tachycardia Panel
Up to 8 genes
The Catecholaminergic Polymorphic Ventricular Tachycardia Panel is a comprehensive next-generation
sequencing (NGS) panel that can be used to confirm a clinical diagnosis of catecholaminergic polymorphic
ventricular tachycardia or identify at-risk individuals.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmia that is characterized
by episodes of syncope that are typically brought on by emotional distress or exercise. Although affected
individuals typically have normal heart rhythms at rest, stress can cause ventricular tachycardia which can
lead to ventricular fibrillation and sudden death, even in individuals with no prior symptoms.
PREVALENCE
The exact prevalence of CPVT is unknown, although the
estimated prevalence is 1 in 10,000 individuals (Napolitano et al, 2014).
copy number variant, please contact our Client Services
team prior to ordering. Analytical sensitivity of the assay
is >99%.
INHERITANCE AND PENETRANCE
INCLUDED DISORDERS
ventricular
CPVT is typically inherited in an autosomal dominant
manner, although forms caused by mutations in TRDN
and CASQ2 are inherited in an autosomal recessive
manner. De novo mutations are estimated to occur in
approximately 40% of cases caused by mutations in the
RYR2 gene (Napolitano et al, 2004).
Disease causing mutations can be identified in
approximately 70% of CPVT cases (Ackerman et al, 2011),
with the majority of cases being caused by mutations
in the RYR2 gene. The Catecholaminergic Polymorphic
Ventricular Tachycardia Panel includes all of common
genetic causes related to this disease.
CPVT exhibits reduced penetrance; the estimated
penetrance of CPVT is approximately 80% (Napolitano et
al, 2004). Approximately 30% of untreated individuals will
experience cardiac arrest or sudden death (Napolitano et
al, 2014).
This panel includes genes associated with:
•
Catecholaminergic
tachycardia (CPVT)
polymorphic
CLINICAL SENSITIVITY
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
single exon. To request analysis of a specific single exon
© Phosphorus 2017
INDICATIONS FOR TESTING
•
Confirmation of a clinical diagnosis
•
Unexplained cardiac arrest
•
Arrhythmia
suggestive
of
catecholaminergic
polymorphic ventricular tachycardia
•
Risk assessment for asymptomatic family of members
of proband with molecular diagnosis of CPVT
www. phosphorus.com | 1-855-746-7423 | [email protected]
032017 CPVTTIS 1.0
INCLUDED GENES (8):
ANK2
CALM1
CALM2
CALM3
CASQ2
KCNJ2
RYR2
TRDN
REFERENCES
1. Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and
cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm
Association (EHRA). Europace. 2011;13(8):1077-109.
2. Napolitano C, Priori SG, Bloise R. Catecholaminergic Polymorphic Ventricular Tachycardia. 2004 Oct 14 [Updated 2016 Oct 13]. In: Pagon RA, Adam
MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
3. Napolitano C, Bloise R, Memmi M, Priori SG. Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT). Eur J Hum
Genet. 2014;22(1)
© Phosphorus 2017
www. phosphorus.com | 1-855-746-7423 | [email protected]
032017 CPVTTIS 1.0