Pan Cardiomyopathy Panel
Summary and Pricing
Test MethodExome Sequencing with CNV Detection
|Test Code||Test Copy Genes||Gene CPT Codes Copy CPT Codes|
|5263||ABCC9||81479,81479||Order Options and Pricing|
|Test Code||Test Copy Genes||Panel CPT Code||Gene CPT Codes Copy CPT Code||Base Price|
|5263||Genes x (82)||81479||81161, 81403, 81404, 81405, 81406, 81407, 81408, 81479||$1030||Order Options and Pricing|
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.
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.
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
Clinical Features and Genetics
Cardiomyopathies are disorders of the myocardium that manifest with various structural and functional changes of the heart. The expressivity of cardiomyopathy is highly variable and patients may present symptoms such as shortness of breath, fatigue, dizziness, fluttering, swelling in the ankles and legs, etc. (Maron et al. 2006; McNally et al. 2015). Clinical heterogeneity may be partially attributed to genetic heterogeneity of the cardiomyopathy disorders. The contribution of genetic factors varies by disorder subtypes and age of onset (Ackerman et al. 2011). Cardiomyopathies include a broad range of disorders, including Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, and Left Ventricular Non-Compaction Cardiomyopathy. Pan cardiomyopathy panel testing could help with differential diagnosis and prognostic stratification for patients with cardiomyopathies (Charron et al. 2010).
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).
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).
Cardiomyopathy represents a group of genetically heterogeneous disorders with substantial genetic component. Genetic causes could contribute significantly in 60% of hypertrophic cardiomyopathy cases, and 30-50% of Dilated Cardiomyopathy cases (Teekakirikul et al. 2013). The inheritance mode of cardiomyopathy disorders include autosomal dominant (AD), autosomal recessive (AR), and X-linked (XL). The majority of cardiac-related genes are associated with autosomal dominant disorders. The ALMS1, DOLK, FKRP, FKTN, GAA, GATAD1, LAMA2, SCO2, and SGCG are associated with autosomal recessive cardiac-related disorders. The DSC2, DSP, JUP, LMNA, SCN5A, TNNI3, and TTN genes are associated with autosomal dominant and recessive cardiac-related disorders. The FHL1, GLA, LAMP2, DMD, EMD, and TAZ 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). 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 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), and ~73% of patients with autosomal dominant or sporadic Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (McNally et al. 2014; Bhuiyan et al. 2009).
Gross deletions or duplications have been reported in CAV3, DES, DSP, NKX2-5, PKP2, RYR2 and SCN5A as individual cases (Human Gene Mutation Database).
This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.
This panel typically provides 98.8% 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
Patients with symptoms and medical history suggestive of cardiomyopathy disorders.
Patients with symptoms and medical history suggestive of cardiomyopathy disorders.
- Ackerman M.J. et al. 2011. Europace. 13: 1077-109. PubMed ID: 21810866
- Bhuiyan Z.A. et al. 2009. Circulation. Cardiovascular Genetics. 2: 418-27. PubMed ID: 20031616
- Charron P. et al. 2010. European Heart Journal. 31: 2715-26. PubMed ID: 20823110
- 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
- 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
- Klaassen S. et al. 2008. Circulation. 117: 2893-901. PubMed ID: 18506004
- Maron B.J. et al. 2006. Circulation. 113: 1807-16. PubMed ID: 16567565
- 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.M. et al. 2015. Cell Metabolism. 21: 174-82. PubMed ID: 25651172
- Morita H. et al. 2008. The New England Journal of Medicine. 358: 1899-908. PubMed ID: 18403758
- Oechslin E., Jenni R. 2011. European Heart Journal. 32: 1446-56. PubMed ID: 21285074
- Online Mendelian Inheritance in Man: http://www.omim.org/
- Teekakirikul P. et al. 2013. The Journal of Molecular Diagnostics. 15: 158-70. PubMed ID: 23274168
- Vatta M. et al. 2003. Journal of the American College of Cardiology. 42: 2014-27. PubMed ID: 14662268
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.
- 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.