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Catecholaminergic Polymorphic Ventricular Tachycardia via the CASQ2 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
CASQ2 81405 81405,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11139CASQ281405 81405,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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 platform).

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

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks 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.


Genetic Counselors


  • 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 emotion stress without any structural cardiac abnormalities (Napolitano et al. GeneReviews, 2013). 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.


CPVT is inherited in an autosomal dominant (RYR2; OMIM 604772) or in an autosomal recessive manner (CASQ2; OMIM 611938). 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. Circ Res 108(7):871-883, 2011). Homozygous or compound heterozygous mutations in CASQ2 cause autosomal recessive CPVT. Nonsense, missense, small deletions, and splicing mutations have been found in CASQ2-associated CPVT (Lahat et al. Am J Hum Genet 69(6):1378-1384, 2001; di Barletta et al. Circulation 114(10):1012-1019, 2006; Roux-Buisson et al. Hum Mutat 32(9):995-999, 2011). Heterozygous carriers for one CASQ2 mutation are generally asymptomatic, however, mildly affected heterozygotes have been reported (Postma et al. Circ Res 91(8):e21-26, 2002).

Clinical Sensitivity - Sequencing with CNV PGxome

Mutations in the CASQ2 gene are found in ~7% of patients with CPVT (Hayashi et al. Circulation 119(18):2426-2434, 2009; Roux-Buisson et al. Hum Mutat 32(9):1-5, 2011).

To date, large deletion and duplication mutations in the CASQ2 gene have not been reported (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the CASQ2 gene 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 full 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. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CASQ2.


Official Gene Symbol OMIM ID
CASQ2 114251
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • di Barletta, M. R. et.al. (2006). "Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia." Circulation 114(10): 1012-1019. PubMed ID: 16908766
  • Hayashi et al. (2009). "Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia." Circulation 119(18):2426-2434. PubMed ID: 19398665
  • Human Gene Mutation Database (Bio-base).
  • Lahat et al. (2001). "A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel." Am J Hum Genet 69(6):1378-1384. PubMed ID: 11704930
  • 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
  • Postma et al. (2002). "Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia." Circ Res 91(8):e21-26. PubMed ID: 12386154
  • Priori SG., Chen SR. 2011. Circulation Research. 108: 871-83. PubMed ID: 21454795
  • Roux-Buisson et al. (2011). "Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management." Hum Mutat 32(9):1-5. PubMed ID: 21618644


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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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View Ordering Instructions

1) Select Test Method (Platform)

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2) Select Additional Test Options

No Additional Test Options are available for this test.

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