Catecholaminergic Polymorphic Ventricular Tachycardia via the TRDN 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
11765 TRDN 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11765TRDN81479 81479(x2) $890 Order Options and Pricing

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

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. 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).

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). So far, causative variants reported in TRDN include one missense, one nonsense and one small deletion (Human Gene Mutation Database)

Clinical Sensitivity - Sequencing with CNV PGxome

Approximately 55%-65% of CPVT cases have identifiable pathogenic variants (Ackerman et al. 2011). CPVT is primarily caused by pathogenic variants in the RYR2 and CASQ2 genes. Variants in RYR2 are responsible for 50-55% of CPVT cases (Priori et al 2002). Less commonly, variants in CASQ2 contribute another 1% ~ 2% of CPVT. Pathogenic variants in the ANK2, CALM1, KCNJ2, KCNQ1, SCN5A and TRDN genes appear to be a rare cause of CPVT (Napolitano et al. 2014). Insufficient data are available to estimate numeric sensitivities.

Testing Strategy

This test provides full coverage of all coding exons of the TRDN 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 TRDN.

Gene

Official Gene Symbol OMIM ID
TRDN 603283
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Ackerman et al. 2011. PubMed ID: 21810866
  • Györke I. et al. 2004. Biophysical Journal. 86: 2121-8. PubMed ID: 15041652
  • Human Gene Mutation Database (Bio-base).
  • Liu N. et al. 2008. Progress in Cardiovascular Diseases. 51: 23-30. PubMed ID: 18634915
  • 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
  • Priori SG. et al. 2002. Circulation. 106: 69-74. PubMed ID: 12093772

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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