Comprehensive Cardiology Panel
Summary and Pricing
Test Method
Exome Sequencing with CNV DetectionTest Code | Test Copy Genes | Panel CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
---|---|---|---|---|---|
2663 | Genes x (198) | 81413 | 81161(x1), 81403(x2), 81404(x10), 81405(x24), 81406(x26), 81407(x6), 81408(x7), 81479(x320) | $1290 | Order Options and Pricing |
Pricing Comments
CPT codes 81413 and 81414 can be used if at least 10 genes (including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR1, and SCN5A) are analyzed. 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 Custom Panel tool.
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).
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
Heart disease is a phenotypically and genetically heterogeneous group of diseases which impair the function and structure of the heart and are the leading cause of death worldwide (Roger et al. 2012). Genetic factors play a role in conferring risk for heart disease. The contribution of inheritance varies by disease and by other factors such as subtype of disease and onset age. Heart disease encompasses a broad range of disorders, such as Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, Brugada syndrome, Long QT syndrome, Short QT syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia and Left Ventricular Non-Compaction Cardiomyopathy.
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) primarily affects the right ventricle. It is characterized by myocardial atrophy, fibrofatty replacement of the ventricular myocardium and inflammatory infiltrates (McNally et al. 2014).
Brugada syndrome (BrS) is a potentially life-threating arrhythmia disorder without structural abnormalities and electrocardiographically characterized by a distinct ST-segment elevation in the right precordial leads (Antzelevitch et al. 2005).
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an inherited arrhythmogenic disorder characterized by life-threatening electrical instability induced by physical or emotional stress without any structural cardiac abnormalities (Napolitano et al. 2014).
Long QT syndrome (LQTS) is characterized by a prolonged cardiac repolarization that may trigger ventricular arrhythmias (torsade de pointes), recurrent syncopes, seizure, or sudden cardiac death (Alders and Christiaans 2015).
Short QT syndrome (SQTS) is associated with marked shortening of QT intervals and sudden cardiac death in individuals with structurally normal hearts (Miyamoto A. et al. 2012).
Left Ventricular Noncompaction (LVNC) Cardiomyopathy is believed to be caused by an arrest in cardiac development during embryogenesis, resulting in a spongy, noncompacted appearance. The numerous trabeculations are most pronounced in the left ventricle (Oechslin et al. 2011; Hoedemaekers et al. 2010).
Dilated Cardiomyopathy (DCM) is a heterogeneous disease of the cardiac muscle characterized by dilatation of the left, right, or both ventricles, systolic dysfunction, and diminished myocardial contractility (Hershberger et al. 2013).
Hypertrophic Cardiomyopathy (HCM) is a primary disease of the cardiac muscle characterized by idiopathic hypertrophy of the left ventricle, although hypertrophy of the right ventricle may also occur. HCM is distinguished by extensive clinical variability between individuals, even within the same family (Cirino et al. 2014)
Genetics
Inherited heart diseases are a group of genetically heterogeneous disorders with a relatively high population frequency, and substantial genetic component. Familial inheritance is common and can be autosomal dominant (AD), autosomal recessive (AR), and X-linked (XL). The major of cardiac-related genes are associated with autosomal dominant disorders. The ABCG5, ABCG8, ALMS1, APOC2, CASQ2, CBS, COX15, DNAJC19, DOLK, EFEMP2, FKRP, FKTN, GAA, GATAD1, GPIHBP1, HADHA, HFE, LAMA2, LDLRAP1, LMF1, LTBP2, SCO2, SGCG, SLC2A10, TRDN and APOE* are associated with autosomal recessive cardiac-related disorders. The DSC2, DSP, ACTA1, JUP, KCNE1, KCNQ1, LMNA, LPL, NPPA, RYR1, SCN5A, SELENON (previously SEPN1), SLC25A4, TNNI3, TTN and APOA4* genes are associated with autosomal dominant and recessive cardiac-related disorders. The FHL1, GLA, LAMP2, DMD, EMD, TAFAZZIN and ZIC3 genes are associated with X-linked recessive cardiac-related disorders, except for LAMP2, which is involved in X-linked dominant cardiac-related disorders (OMIM; Human Gene Mutation Database, *limited cases). See individual gene test descriptions for information on molecular biology of gene products.
Clinical Sensitivity - Sequencing with CNV PGxome
The sensitivity of this panel varies based on the type of disease. This test is predicted to detect causative variants in ~60% of Hypertrophic Cardiomyopathy patients (Morita et al. 2008; Hershberger et al. 2009), up to 20-30% of adults with Left Ventricular Noncompaction (Ichida et al 2001; Vatta et al. 2003; Hermida-Prieto et al. 2004; Klaassen et al. 2008; Hoedemaekers et al. 2010), 30-40% of patients with familial Dilated Cardiomyopathy (Hershberger and Morales 2013), ~73% of patients with autosomal dominant or sporadic Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (McNally et al. 2014; Bhuiyan et al. 2009), 52%-60% of Catecholaminergic Polymorphic Ventricular Tachycardia cases (Napolitano et al. 2014), ~ 80% of patients with Long QT syndrome (Splawski et al. 2000; Taggart et al 2007; Ackerman et al. 2011); 20%-35% of Brugada syndrome cases (Kapplinger et al 2010; Crotti et al. 2012); and 15%-20% of Short QT syndrome cases (Schimpf et al. 2008).
Gross deletions or duplications not detectable by Sanger sequencing have been reported in CACNA2D1, CACNB2, CAV3, DES, DSP, GJA5, GPD1L, KCNA5, KCNH2, KCNJ2, KCNQ1, NKX2-5, PKP2, RYR2 and SCN5A as individual cases (Human Gene Mutation Database).
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. 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 symptoms and medical history suggestive of inherited heart disease.
Patients with symptoms and medical history suggestive of inherited heart disease.
Genes
Inheritance | Abbreviation |
---|---|
Autosomal Dominant | AD |
Autosomal Recessive | AR |
X-Linked | XL |
Mitochondrial | MT |
Diseases
Related Test
Name |
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PGxome® |
Citations
- Ackerman M.J. et al. 2011. Europace. 13: 1077-109. PubMed ID: 21810866
- Alders M, Christiaans I. Long QT Syndrome. 2015. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301308
- Antzelevitch C. et al. 2005. Circulation. 111: 659-70. PubMed ID: 15655131
- Bhuiyan Z.A. et al. 2009. Circulation. Cardiovascular Genetics. 2: 418-27. PubMed ID: 20031616
- Cirino, A.L., Ho, C. 2014. Hypertrophic Cardiomyopathy Overview. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301725
- Crotti L. et al. 2012. Journal of the American College of Cardiology. 60: 1410-8. PubMed ID: 22840528
- Hermida-Prieto M. et al. 2004. The American Journal of Cardiology. 94: 50-4. PubMed ID: 15219508
- Hershberger R.E. et al. 2009. Circulation. Heart Failure. 2: 253-61. PubMed ID: 19808347
- Hershberger R.E., Morales A. 2013. Dilated Cardiomyopathy Overview. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301486
- Hoedemaekers Y.M. et al. 2010. Circulation. Cardiovascular Genetics. 3: 232-9. PubMed ID: 20530761
- Human Gene Mutation Database (Bio-base).
- Ichida F. et al. 2001. Circulation. 103: 1256-63. PubMed ID: 11238270
- Kapplinger J.D. et al. 2010. Heart Rhythm. 7: 33-46. PubMed ID: 20129283
- Klaassen S. et al. 2008. Circulation. 117: 2893-901. PubMed ID: 18506004
- 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
- Miyamoto A. et al. 2012. Heart Rhythm. 9: 66-74. PubMed ID: 21855519
- Morita H. et al. 2008. The New England Journal of Medicine. 358: 1899-908. PubMed ID: 18403758
- 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
- Oechslin E., Jenni R. 2011. European Heart Journal. 32: 1446-56. PubMed ID: 21285074
- Online Mendelian Inheritance in Man: http://www.omim.org/
- Roger V.L. et al. 2012. Circulation. 125: 188-97. PubMed ID: 22215894
- Schimpf R. et al. 2008. Current Opinion in Cardiology. 23:192-8. PubMed ID: 18382206
- Splawski I. et al. 2000. Circulation. 102: 1178-85. PubMed ID: 10973849
- Taggart N.W. et al. 2007. Circulation. 115: 2613-20. PubMed ID: 17502575
- Vatta M. et al. 2003. Journal of the American College of Cardiology. 42: 2014-27. PubMed ID: 14662268
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
ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.