Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)/Dysplasia Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10261 CDH2 81479,81479 Order Options and Pricing
CTNNA3 81479,81479
DES 81405,81479
DSC2 81406,81479
DSG2 81406,81479
DSP 81406,81479
FLNC 81479,81479
JUP 81406,81479
LDB3 81406,81479
LMNA 81406,81479
PKP2 81406,81479
PLN 81403,81479
RYR2 81408,81479
SCN5A 81407,81479
TGFB3 81479,81479
TMEM43 81406,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10261Genes x (16)81479 81403, 81405, 81406, 81407, 81408, 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

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. With disease progression and frequent left ventricle involvement (32-88%), heart failure may result. The most common symptoms include ventricular arrhythmias, recurrent syncope, seizures and sudden death after physical or emotional stress (Marcus et al. 2010. PubMed ID: 20172911). ARVC/D is present in ~20% of young sudden cardiac death victims (Corrado et al. 1998. PubMed ID: 9691102). ARVC/D affects between 1/2,000 and 1/5,000 people worldwide with a higher prevalence in men compared to women and typically presents in the 2nd-4th decade of life (Peters. 2006. PubMed ID: 16737750; Corrado and Thiene. 2006. PubMed ID: 16585401). For more information, see McNally et al. 2014 (PubMed ID: 20301310).

Genetics

ARVC/D is a heterogeneous disease that is inherited in roughly 50% of the cases (Basso et al. 2004. PubMed ID: 15039134). The mode of inheritance is most often autosomal dominant (AD) with age- and gender-dependent penetrance. Pathogenic variants in three genes encoding desmosomal proteins, PKP2, DSP, and DSG2, account for the great majority of known genetic causes of ARVC/D (McNally et al. 2014. PubMed ID: 20301310). Pathogenic variants in the DSC2 gene account for ~2% of patients with a clinical diagnosis of ARVC/D (Bhuiyan et al. 2009. PubMed ID: 20031616). The remaining genes are rare causes (<1-2% each) of ARVC/D. This panel includes 16 genes associated with ARVC/D: CDH2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LDB3, LMNA, PKP2, PLN, RYR2, SCN5A, TGFB3, and TMEM43. A wide variety of causative variants (missense, nonsense, splicing, small deletions and insertions) have been reported. Large deletions/duplications and complex genomic rearrangements have also been reported in a few genes (DES, DSP, PKP2) (Human Gene Mutation Database). See individual gene test descriptions for information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

Genetic testing of individuals that meet the revised diagnostic criteria for arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) (Marcus et al. 2010. PubMed ID: 20172911) found pathogenic variants in 58% of families (Quarta et al. 2011. PubMed ID: 21606390), however, this study only included the 6 most common genes involved in ARVC/D. The inclusion of additional genes is expected to improve the yield of this panel.

The proportion of ARVC/D cases attributed to gross deletions and duplications is unknown, but presumed to be low. Gross deletions and insertions in PKP2 have been reported to cause ARVC/D (Roberts et al. 2013. PubMed ID: 22889254; Kapplinger et al. 2011. PubMed ID: 21636032). Gross deletions in DES have been observed in patients with myopathy (Muñoz-Mármol et al. 1998. PubMed ID: 9736733; Piñol-Ripoll et al. 2009. PubMed ID: 19433360).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 98.9% coverage of all coding exons of the genes 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 coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

All patients with symptoms suggestive of ARCV/D syndrome are candidates for this test. See Marcus et al. 2010 (PubMed ID: 20172911) for details on the criteria for the clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D).

Genes

Official Gene Symbol OMIM ID
CDH2 114020
CTNNA3 607667
DES 125660
DSC2 125645
DSG2 125671
DSP 125647
FLNC 102565
JUP 173325
LDB3 605906
LMNA 150330
PKP2 602861
PLN 172405
RYR2 180902
SCN5A 600163
TGFB3 190230
TMEM43 612048
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Name
PGxome®
Comprehensive Cardiac Arrhythmia Panel
Comprehensive Cardiology Panel
Left Ventricular Noncompaction (LVNC) Panel
Sudden Cardiac Arrest Panel

Citations

  • Basso et al. 2004. PubMed ID: 15039134
  • Bhuiyan et al. 2009. PubMed ID: 20031616
  • Corrado and Thiene. 2006. PubMed ID: 16585401
  • Corrado et al. 1998. PubMed ID: 9691102
  • Human Gene Mutation Database (Bio-base).
  • Kapplinger et al. 2011. PubMed ID: 21636032
  • Marcus et al. 2010. PubMed ID: 20172911
  • McNally et al. 2014. PubMed ID: 20301310
  • Muñoz-Mármol et al. 1998. PubMed ID: 9736733
  • Peters. 2006. PubMed ID: 16737750
  • Piñol-Ripoll et al. 2009. PubMed ID: 19433360
  • Quarta et al. 2011. PubMed ID: 21606390
  • Roberts et al. 2013. PubMed ID: 22889254

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.

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

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ORDER OPTIONS

View Ordering Instructions

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.

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