Catecholaminergic Polymorphic Ventricular Tachycardia via the CASQ2 Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 11139 | CASQ2 | 81405 | 81405,81479 | $890 | 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 backbone).
Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).
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.
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.
Genetics
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.
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.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| CASQ2 | 114251 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 | AR | 611938 |
Citations
- 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/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 Instructions1) 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.