Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and DSP-Related Disorders via the DSP 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 | |
|---|---|---|---|---|---|
| 11267 | DSP | 81406 | 81406,81479 | $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.
Clinical Features and Genetics
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
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (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 (AD) with age- and gender-dependent penetrance. Autosomal recessive (AR) ARVC/D with hair and skin abnormalities have been described. To date, eight genes have been implicated in ARVC/D. 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; den Haan et al. Circ Cardiovasc Genet 2:428-435, 2009). Causative mutations detected in patients with AD-ARVC/D include nonsense, missense and splicing mutations (Rampazzo et al. Am J Hum Genet 71:1200-1206, 2002; Quarta et al. Circulation 123:2701-9, 2011). Mutations in DSP have been found in patients with arrhythmogenic left ventricular cardiomyopathy (Norman et al. Circulation 112:636-642, 2005; Sen-Chowdhry et al. J Am Coll Cardiol 52:2175-87, 2008). DSP mutations have also been found in AR Skin Fragility-Woolly Hair Syndrome (SFWHS), AR Dilated Cardiomyopathy with Woolly Hair and Keratoderma (DCWHK), AR Ectodermal Dysplasia and AR Epidermolysis Bullosa.
Clinical Sensitivity - Sequencing with CNV PGxome
This test will detect mutations in up to 16% of patients with clinical diagnosis of ARVC/D (Bauce et al. Eur Heart J 26:1666-1675, 2005).
Testing Strategy
This test provides full coverage of all coding exons of the DSP 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
Candidates for this test are patients presenting with symptoms suggestive of ARVC/D, SFWHS , DCWHK, Ectodermal Dysplasia and Epidermolysis Bullosa. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in DSP.
Candidates for this test are patients presenting with symptoms suggestive of ARVC/D, SFWHS , DCWHK, Ectodermal Dysplasia and Epidermolysis Bullosa. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in DSP.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| DSP | 125647 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
Citations
- Basso C. et al. 2004. European Heart Journal. 25: 531-4. PubMed ID: 15039134
- Bauce, B., et.al. (2005). "Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations." Eur Heart J 26(16): 1666-75. PubMed ID: 15941723
- 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
- den Haan, AD., et al. (2009) "Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy." Circ Cardiovasc Genet 2(5):428-35 PubMed ID: 20031617
- 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
- Norman, M., et.al. (2005). "Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy." Circulation 112(5): 636-42. PubMed ID: 16061754
- Quarta, G., et al. (2011) "Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria." Circulation 123:2701-9. PubMed ID: 21606390
- Rampazzo, A., et.al. (2002). "Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy." Am J Hum Genet 71(5): 1200-6. PubMed ID: 12373648
- Sen-Chowdhry et al. (2008) "Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity." J Am Coll Cardiol 52:2175-87. PubMed ID: 19095136
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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2) Select Additional Test Options
No Additional Test Options are available for this test.