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Catecholaminergic Polymorphic Ventricular Tachycardia Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10249 ANK2 81479,81479 Order Options and Pricing
CALM1 81479,81479
CALM2 81479,81479
CALM3 81479,81479
CASQ2 81405,81479
KCNJ2 81403,81479
KCNQ1 81406,81479
RYR2 81408,81479
SCN5A 81407,81479
TECRL 81479,81479
TRDN 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10249Genes x (11)81479 81403(x1), 81405(x1), 81406(x1), 81407(x1), 81408(x1), 81479(x17) $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Chun-An Chen, PhD

Clinical Features and Genetics

Clinical Features

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an inherited arrhythmogenic heart disorder characterized by life-threatening electrical instability induced by physical or emotional stress without any structural cardiac abnormalities (Napolitano et al. 2014). The electrical instability may degenerate into cardiac arrest and sudden death. CPVT typically onsets during childhood and often presents as syncope. Preventative drugs (beta-blockers) and other treatments are available for susceptible individuals.

Genetics

CPVT is inherited in an autosomal dominant (ANK2; CALM1; KCNJ2; KCNQ1; RYR2; SCN5A) or in an autosomal recessive manner (CASQ2; TRDN). The true prevalence of CPVT is unknown, but is estimated to be about 1 in 10,000 people (Liu et al. 2008). This panel includes 8 genes associated with CPVT: ANK2, CALM1, CASQ2, KCNJ2, KCNQ1, RYR2, SCN5A and TRDN. A wide variety of causative variants (missense, nonsense, splicing, small deletions and insertions) have been reported. Large deletions/duplications and complex genomic rearrangements have also been reported in a few genes (KCNQ1, KCNJ2, RYR2 and SCN5A) (Human Gene Mutation Database).

Ankyrin-B protein, encoded by the ANK2 gene, is a member of the ankyrin family of proteins and plays essential roles in the targeting and membrane stabilization of ion channels and transporters in cardiomyocytes, such as Na/K-ATPase, Na/Ca exchanger, and InsP3 receptor (Mohler et al. 2007).

CALM1 is the archetype of the calmodulin (calcium-modulated proteins) family of which nearly 20 members have been identified. Calmodulin (CaM) is a multifunctional calcium ion sensor protein that transduces much of the calcium signaling (Kobayashi et al. 2015).

CASQ2 (calsequestrin 2) encodes for the cardiac sarcoplasmic reticulum calcium buffering protein and RYR2 (ryanodine receptor 2) encodes for the cardiac calcium release channel. Both proteins play essential roles in the release of calcium from the sarcoplasmic reticulum (Priori et al. 2011).

KCNJ2, encoding the inward rectifier potassium channel 2 protein (Kir2.1), is an important determinant of resting membrane potential and cell excitability (Plaster et al. 2001).

KCNQ1 codes for the voltage-gated potassium channel protein KvLQT1 that is highly expressed in the heart muscle and inner ear, and helps transport positively charged potassium ions out of cells. In the heart, the channels are involved in recharging the cardiac muscle after each heartbeat to maintain a regular rhythm. In the inner ear, these channels help maintain the proper ion balance needed for normal hearing.

The SCN5A gene encodes the alpha-subunit of human cardiac sodium channel, which is responsible for the generation of cardiac action potential and for rapid impulse conduction through the myocardium.

TRDN encodes an integral membrane protein, Triadin, which contains a single transmembrane domain. Triadin plays a role in skeletal muscle excitation-contraction coupling by interacting with the RYR2 and RYR1 proteins and contributing to sarcoplasmic reticulum calcium regulation (Györke et al. 2004).

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic variants in these eight genes account for 52%-60% of CPVT cases (Napolitano et al. 2014).

Clinical sensitivity for deletion and duplications is currently not known. To date, three large deletions in the RYR2 gene have been described in patients with CPVT (Bhuiyan et al. 2007; Marjamaa et al. 2009, Medeiros-Domingo et al. 2009).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 100% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Patients with CPVT. Individuals with exercise or stress induced cardiac arrest or sudden unexplained death are also candidates.

Genes

Official Gene Symbol OMIM ID
ANK2 106410
CALM1 114180
CALM2 114182
CALM3 114183
CASQ2 114251
KCNJ2 600681
KCNQ1 607542
RYR2 180902
SCN5A 600163
TECRL 0
TRDN 603283
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Bhuiyan ZA et al. 2007. Circulation. 116: 1569-76. PubMed ID: 17875969
  • Györke I. et al. 2004. Biophysical Journal. 86: 2121-8. PubMed ID: 15041652
  • Human Gene Mutation Database (Bio-base).
  • Kobayashi H. et al. 2015. Development (Cambridge, England). 142: 375-84. PubMed ID: 25519244
  • Liu N. et al. 2008. Progress in Cardiovascular Diseases. 51: 23-30. PubMed ID: 18634915
  • Marjamaa A et al. 2009. Bmc Medical Genetics. 10: 12. PubMed ID: 19216760
  • Medeiros-Domingo A. et al. 2009. Journal of the American College of Cardiology. 54: 2065-74. PubMed ID: 19926015
  • Mohler PJ. et al. 2007. Circulation. 115: 432-41. PubMed ID: 17242276
  • Napolitano, C. et al. 2014. Catecholaminergic Polymorphic Ventricular Tachycardia. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301466
  • Plaster NM. et al. 2001. Cell. 105: 511-9. PubMed ID: 11371347
  • Priori SG., Chen SR. 2011. Circulation Research. 108: 871-83. PubMed ID: 21454795

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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