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Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the PKP2 Gene

Order Options and Pricing
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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
PKP2 81406 81406,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9913PKP281406 81406,81479 $990 Order Options and Pricing

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Chun-An Chen, PhD

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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Chun-An Chen, PhD

Clinical Features and Genetics

Indications for Test

All patients with symptoms suggestive of ARVC/D.

Clinical Features

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart disease primarily affecting the right ventricle. It is characterized by myocardial atrophy, fibrofatty replacement of the ventricular myocardium and inflammatory infiltrates (McNally et al. GeneReviews, 2009). With disease progression and occasional left ventricle involvement, heart failure may result. The most common symptoms include ventricular arrhythmias, recurrent syncope, seizures and sudden death after physical or emotional stress. ARVC/D is present in ~20% of young sudden cardiac death victims (Corrado et al. N Engl J Med 339:364-369, 1998). ARVC/D affects between 1/1000 and 1/5000 people worldwide with a higher prevalence in men compared to women (Corrado and Thiene Circulation 113:1634-1637, 2006).

Genetics

ARVC/D is a heterogeneous disease that is inherited in about 50% of the cases (Basso et al. Eur Heart J 25:531-534, 2004). The mode of inheritance is most often autosomal dominant with age- and gender-dependent penetrance. Autosomal recessive variants of ARVC/D with hair and skin abnormalities have also been described (Protonotarios et al. Br Heart J 56:321-326, 1986). To date, eight genes, including PKP2,  have been implicated in autosomal dominant ARVC/D (Gerull et al. Nat Genet 36:1162-1164, 2004). Mutations in four genes encoding desmosomal proteins, PKP2, DSP, DSG2 and DSC2 account for the majority of known genetic causes of ARVC/D (McNally et al. GeneReviews, 2009; Bhuiyan et al. Circ Cardiovasc Genet 2:418-427, 2009).  Documented causative mutations in PKP2 are distributed throughout the coding region. The majority of causative mutations are nonsense, small insertion/deletion or splice site mutations, which are predicted to result in nonsense mediated mRNA decay or a truncated protein (http://www.biobase-international.com). PKP2 mutations have been detected in patients with diverse ethnic backgrounds and represent a major cause of ARVC/D (van Tintelen et al. Circulation 113:1650-1658, 2006).

Clinical Sensitivity - Sequencing with CNV PGxome

This test will detect causative mutations in up to 43% of patients with clinical diagnosis of ARVC/D (van Tintelen et al. Circulation 113:1650-1658, 2006; Dalal et al. Circulation 113:1641-1649, 2006).

Testing Strategy

This test provides full coverage of all coding exons of the PKP2 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

All patients with symptoms suggestive of ARVC/D.

Gene

Official Gene Symbol OMIM ID
PKP2 602861
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9 609040

Citations

  • Basso C. et al. 2004. European Heart Journal. 25: 531-4. PubMed ID: 15039134
  • Bhuiyan ZA et al. 2009. Circulation. Cardiovascular Genetics. 2: 418-27. PubMed ID: 20031616
  • Corrado D. et al. 1998. The New England Journal of Medicine. 339: 364-9. PubMed ID: 9691102
  • Corrado D., Thiene G. 2006. Circulation. 113: 1634-7. PubMed ID: 16585401
  • Dalal, D., et.al. (2006). "Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2." Circulation 113(13): 1641-9. PubMed ID: 16549640
  • Gerull, B., et.al. (2004). "Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy." Nat Genet 36(11): 1162-4. PubMed ID: 15489853
  • Human Gene Mutation Database.
  • McNally E. et al. 2014. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant. 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: 20301310
  • McNally E. et al. 2014. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant. 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: 20301310
  • Protonotarios, N., et.al. (1986). "Cardiac abnormalities in familial palmoplantar keratosis." Br Heart J 56(4): 321-6. PubMed ID: 2945574
  • van Tintelen, J. P., et.al. (2006). "Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy." Circulation 113(13): 1650-8. PubMed ID: 16567567
  • van Tintelen, J. P., et.al. (2006). "Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy." Circulation 113(13): 1650-8. PubMed ID: 16567567

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

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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ORDER OPTIONS

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