Pan Cardiomyopathy Panel (62 Genes) Test Details
Inherited cardiomyopathies are a group of genetically heterogeneous cardiac diseases with a relatively high population frequency, association with sudden cardiac death, and substantial genetic component. Familial inheritance is common and typically follows an autosomal dominant pattern, though all other forms of inheritance exist. The predominant forms are hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), followed by arrhythmogenic cardiomyopathy and left ventricular non-compaction (LVNC).Read More...
Please select on the disease to read more:
Available Cardiomyopathy Panel Tests
- For cases with an unclear diagnosis
- For diagnoses where the genetic contribution is incompletely characterized (e.g. LVNC, RCM)
- For comprehensive testing
- For cases with a clear diagnosis of HCM
- For diagnoses with clinical and genetic heterogeneity (e.g. DCM, ARVC)
§Optional reflex to remaining genes
Storage Cardiomyopathy - please select a disease to learn more
Read More for expanded gene table.Read More...
|ABCC9||ATP-Binding Cassette, Subfamily C, Member 9||601439||12p12.1|
|ACTC1||Actin, Alpha, Cardiac Muscle||102540||15q14|
|ANKRD1||Ankyrin Repeat Domain-Containing Protein 1||609599||10q23.3|
|BAG3||BCL2-Associated Athanogene 3||603883||10q25.2-q26.2|
|CHRM2||Cholinergic Receptor, Muscarinic, 2||118493||7q33|
|CSRP3||Cysteine- And Glycine-Rich Protein 3||600824||11p15.1|
|FHL2||Four-and-a-half LIM Domains 2||602633||2q12.2|
|GATAD1||Gata Zinc Finger Domain-Containing Protein 1||614518||7q21-q22|
|LAMP2||Lysosome-Associated Membrane Protein 2||309060||Xq24|
|LDB3||Lim Domain-Binding 3||605906||10q22.3-q23.2|
|MURC||Muscle Related Coiled-Coil Protein||n/a||9q31.1|
|MYBPC3||Myosin-Binding Protein C, Cardiac||600958||11p11.2|
|MYH6||Myosin, Heavy Chain 6, Cardiac Muscle, Alpha||160710||14q12|
|MYH7||Myosin, Heavy Chain 7, Cardiac Muscle, Beta||160760||14q12|
|MYL2||Myosin, Light Chain 2, Regulatory, Cardiac, Slow||160781||12q24.11|
|MYL3||Myosin, Light Chain 3, Alkali, Ventricular, Skeletal, Slow||160790||3p21.3-p21.2|
|MYLK2||Myosin Light Chain Kinase 2||606566||20q13.31|
|NEXN||Nexilin (F Actin Binding Protein)||613121||1p31.1|
|PDLIM3||PDZ And LIM Domain Protein 3||605899||4q35.1|
|PRDM16||PR Domain-Containing Protein 16||605557||1p36.32|
|PRKAG2||Protein Kinase, AMP-Activated, Noncatalytic, Gamma-2||602743||7q36.1|
|PTPN11||Protein-Tyrosine Phosphatase, Nonreceptor-Type, 11||176876||12q24.13|
|RAF1||V-RAF-1 Murine Leukemia Viral Oncogene Homolog 1||164760||3p25.2|
|RBM20||RNA-Binding Motif Protein 20||613171||10q25.2|
|RYR2||Ryanodine Receptor 2 (Cardiac)||180902||1q43|
|SCN5A||Sodium Channel, Voltage-Gated, Type V, Alpha Subunit||600163||3p21|
|SGCD||Sarcoglycan, Delta (35Kda Dystrophin-Associated Glycoprotein)||601411||5q33-q34|
|TMEM43||Transmembrane Protein 43||612048||3p25.1|
|TNNC1||Troponin C Type 1 (Slow)||191040||3p21.1|
|TNNI3||Troponin I Type 3 (Cardiac)||191044||19q13.4|
|TNNT2||Troponin T Type 2 (Cardiac)||191045||1q32|
|TPM1||Tropomyosin 1 (Alpha)||191010||15q22.1|
The Pan Cardiomyopathy Panel is best suited for individuals who already have exhausted current testing options or those whose clinical diagnosis is not yet clear and may help shorten the “diagnostic odyssey.” While the Pan Cardiomyopathy Panel offers comprehensive testing for gene for all forms of cardiomyopathy, there is a higher likelihood of finding novel variants, which may be more difficult if it is found in a gene that is not (yet) known to cause the individual’s disease.
The disease-specific sub-panels should be ordered for individuals with a clear diagnosis and where identification of a large number of variants of uncertain significance would be cumbersome to the patient or physician. Each sub-panel will provide comprehensive coverage of the implicated genes for that disease and reduce the incidence of variants of uncertain significance in unrelated genes.
This test is performed by next generation sequencing using Agilent SureSelect capture followed by sequencing of the coding regions and splice sites using Illumina sequencing technologies. Variant calls are generated using the Burrows-Wheeler Aligner followed by Genomic Analysis Tool Kit (GATK) analysis. Detection of copy number variants (CNVs) encompassing 1 or more exons is performed using VisCap™ analysis. Sanger sequencing is used to fill in regions with insufficient coverage. All clinically significant variants are confirmed by Sanger sequencing or an alternate assay. Variants classified as likely benign or benign are not confirmed. This test does not detect variants in non-coding regions that could affect gene expression, aside from the splice junctions, and a few exons have been excluded due to technical difficulties. CNV analysis is only performed when data meets necessary quality standards and may not be available for all cases.
Analytical and Clinical Sensitivity
This test is 100.00% sensitive (525/525 variants tested; 95% CI = 99.27-100.00% ) to detect variants changing a single base and 100.00% sensitive to detect insertion/deletions 1-21 bp in size (17/17 variants tested; 95% CI = 81.57-100.00%). Regions with high sequence homology are included in this test if a unique Sanger sequencing assay can be designed to rule out false positive calls. Analytical sensitivity in these regions may be reduced.
The detection rate of the Pan Cardiomyopathy Panel is approximately 35% for HCM, ~37% for DCM and ~50% for ARVC. The detection rate for the other cardiomyopathies remains unknown.