The genetic landscape of inherited cardiopulmonary disease spans sarcomeric and cytoskeletal defects leading to cardiomyopathy, ion channel and desmosomal abnormalities predisposing to malignant arrhythmias and sudden cardiac death, connective tissue and vascular wall disorders causing aortopathy and pulmonary arterial hypertension, and monogenic causes of congenital heart disease, thrombophilia, and primary pulmonary parenchymal disease. Germline disruption across these pathways underlies a wide spectrum of presentations, including unexplained syncope or resuscitated cardiac arrest, dilated, hypertrophic, or arrhythmogenic cardiomyopathy, long QT and other channelopathies, heritable aortic aneurysm and dissection syndromes, recurrent venous thromboembolism at a young age, pulmonary hypertension, interstitial and surfactant-related lung disease, and chronic or recurrent respiratory failure. Early, accurate molecular diagnosis is critical, as many hereditary cardiopulmonary conditions have specific surveillance, lifestyle modification, pharmacologic, and interventional strategies that can mitigate risk of sudden death, heart failure progression, or irreversible pulmonary vascular damage.
PreCheck Health Services’ Cardiovascular & Pulmonary Disorders Panel is an advanced targeted exome assay encompassing key genes involved in sarcomeric and cytoskeletal structure, ion channel and conduction system function, desmosomal integrity, cardiac transcriptional control and morphogenesis, vascular smooth muscle and extracellular matrix homeostasis, coagulation and thrombophilia, and pulmonary vascular, surfactant, and ciliary biology. The panel is curated using evidence from ACMG, ClinGen, OMIM, GeneReviews, and current peer-reviewed literature to prioritize genes with well-established gene–disease relationships and actionable phenotypes. This approach enables identification of clinically meaningful germline variants that support definitive diagnosis, refine etiologic classification, guide primary and secondary prevention (including ICD placement, pharmacotherapy, and surgical or catheter-based intervention), inform aortic and pulmonary vascular surveillance and transplant decisions, and facilitate cascade testing and reproductive counseling for at-risk relatives.
This assay is designed for patients presenting with or at risk for:
❖ Unexplained syncope, resuscitated cardiac arrest, or a family history of sudden unexplained death, particularly at a young age or during exertion
❖ Dilated, hypertrophic, restrictive, noncompaction, or arrhythmogenic cardiomyopathy where a hereditary etiology is suspected
❖ Primary electrical disorders of the heart (e.g., long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, conduction system disease) with or without structural heart abnormalities
❖ Unexplained pulmonary arterial hypertension, chronic thromboembolic pulmonary hypertension, or right heart failure with suspicion for a genetic pulmonary vascular disorder
❖ Early-onset, familial, or otherwise atypical interstitial or parenchymal lung disease, surfactant dysfunction, or unexplained chronic respiratory failure
❖ Primary ciliary dyskinesia, recurrent sinopulmonary infections, or bronchiectasis where a monogenic disorder of mucociliary clearance is suspected
❖ Recurrent venous thromboembolism, pulmonary embolism, or thrombosis at a young age, especially in the setting of a positive family history or minimal provoking factors
❖ Individuals with a personal or family history of confirmed or suspected hereditary cardiomyopathy, channelopathy, aortopathy, or pulmonary disorder in whom the specific molecular diagnosis remains unresolved, or where clarifying carrier status and recurrence risk is important for reproductive planning and cascade testing
This Cardiovascular & Pulmonary Disorders Panel encompasses genes central to myocardial structure and contractility, cardiac ion channel function and electrical conduction, desmosomal integrity, vascular wall and aortic architecture, pulmonary vascular tone and remodeling, cardiac morphogenesis and left–right patterning, motile cilia and mucociliary clearance, surfactant metabolism and interstitial lung disease, and telomere/mitochondrial and storage disorders with major cardiopulmonary involvement. Genes are organized into major biological and clinical pathways relevant to hereditary cardiomyopathy, channelopathies and sudden cardiac death, heritable aortopathy, pulmonary arterial hypertension, congenital heart disease, primary ciliary dyskinesia, monogenic interstitial lung disease, and multisystem syndromes manifesting with combined cardiac and pulmonary phenotypes.
1.Hereditary Cardiomyopathy, Myocardial Structure, and Contractile Function
Genes encoding sarcomeric, cytoskeletal, Z-disc, and associated signaling proteins that maintain myocardial contractility, chamber geometry, and mechano-transduction. Pathogenic variants cause hypertrophic, dilated, restrictive, arrhythmogenic, and noncompaction cardiomyopathies, often with heart failure, arrhythmia, or thromboembolic complications:
❖ ACTC1, ACTN2, ALPK3, BAG3, CSRP3, DES, FLNC, FHL1, FHOD3, GAA, GYG1, JPH2, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYH11, MYL2, MYL3, MYLK, MYPN, NPPA, PRDM16, PRKAG2, RBM20, SGCD, TCAP, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, VCL
2.Cardiac Ion Channel, Calcium-Handling, and Electrical Conduction Disorders
Genes encoding voltage-gated ion channels, channel subunits, and calcium-handling proteins responsible for cardiac depolarization, repolarization, and excitation–contraction coupling. Defects underlie long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia (CPVT), atrial/ventricular conduction disease, and idiopathic ventricular fibrillation:
❖ CACNA1C, CACNA1D, CALM1, CALM2, CALM3, CASQ2, HCN4, KCNA5, KCND3, KCNE1, KCNH2, KCNJ2, KCNJ8, KCNK3, KCNQ1, RYR2, SCN1B, SCN2B, SCN5A, TRDN, TRPM4
3.Desmosomal, Intercalated Disc, and Arrhythmogenic Cardiomyopathy
Genes encoding desmosomal proteins, cell–cell adhesion molecules, and intercalated disc components critical for mechanical and electrical coupling between cardiomyocytes. Pathogenic variants predispose to arrhythmogenic right and left ventricular cardiomyopathy, ventricular arrhythmias, and sudden cardiac death, often in the setting of exercise:
❖ DSC2, DSG2, DSP, JUP, PKP2, SGCD, TMEM43
4.Heritable Aortopathy, Arterial and Venous Vascular Disorders
Genes involved in extracellular matrix assembly, elastic fiber formation, TGF-β signaling, and smooth muscle contractile apparatus of the arterial wall. Pathogenic variants cause syndromic and non-syndromic thoracic aortic aneurysm and dissection, arterial tortuosity, pulmonary artery and systemic vascular abnormalities, and related connective tissue phenotypes:
❖ ACTA2, COL3A1, EFEMP2, ELN, FBN1, FBN2, FBLN5, LOX, LTBP3, LTBP4, MFAP5, PLOD1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, TGFB2, TGFB3, TGFBR1, TGFBR2, ZFPM2
5.Pulmonary Arterial Hypertension and Pulmonary Vascular Biology
Genes regulate BMP/TGF-β signaling, endothelial and smooth muscle cell function, ion channel activity, and cyclic GMP signaling in the pulmonary vasculature. Variants confer risk for heritable and idiopathic pulmonary arterial hypertension (PAH), pulmonary veno-occlusive disease, and related right-sided heart failure:
❖ ABCC8, ABCC9, ACVRL1, ATP13A3, BMPR2, CAV1, EIF2AK4, ENG, GDF2, KCNK3, KDR, PRKG1, SMAD9, SOX17
6.Congenital Heart Disease, Cardiac Development, and Left–Right Patterning
Genes encoding cardiac transcription factors, signaling molecules, and structural proteins directing heart tube formation, septation, outflow tract development, and great vessel positioning. Pathogenic variants are associated with conotruncal defects, atrioventricular septal defects, left-sided obstructive lesions, atrial/ventricular septal defects, and heterotaxy or complex congenital heart disease:
❖ CRELD1, GATA4, GATA6, GDF1, JAG1, MED13L, NKX2-5, NKX2-6, NOTCH1, NOTCH2, NR2F2, PKD1L1, TBX1, TBX4, TBX5, TBX20, TFAP2B, ZIC3
7.Primary Ciliary Dyskinesia and Motile Cilia Disorders Genes encoding components of the axoneme, inner and outer dynein arms, radial spokes, nexin–dynein regulatory complexes, and assembly factors required for motile cilia function in the respiratory tract and embryonic node. Pathogenic variants cause primary ciliary dyskinesia (PCD) with chronic sinopulmonary infections, bronchiectasis, situs abnormalities, and subfertility:
❖ CCDC39, CCDC40, CCNO, CFAP298, CFAP300, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF19, DNAH5, DNAH9, DNAH11, DNAI1, DNAI2, DNAL1, DRC1, DRC2, FOXJ1, HYDIN, ODAD1, ODAD2, ODAD3, ODAD4, RSPH1, RSPH3, RSPH4A, RSPH9
8.Surfactant Metabolism, Interstitial Lung Disease, and Telomere Biology Disorders
Genes involved in surfactant protein production and processing, alveolar epithelial differentiation, granulocyte–macrophage signaling, and telomere maintenance. Defects underlie neonatal respiratory failure, childhood interstitial lung disease, adult-onset pulmonary fibrosis, pulmonary hemorrhage, and combined bone marrow–lung “telomeropathy” phenotypes:
❖ ABCA3, CSF2RA, CSF2RB, FOXF1, RTEL1, SFTPA1, SFTPA2, SFTPB, SFTPC, SLC34A2, STING1 (TMEM173), TERC, TERT, TINF2, DKC1, NHP2, NOP10, PARN
9.Mitochondrial, Metabolic, and Multisystem Disorders with Cardiopulmonary Involvement
Nuclear genes affecting mitochondrial translation, respiratory chain assembly, cardiolipin remodeling, glycosylation, and lysosomal or storage pathways that present with cardiomyopathy, conduction disease, pulmonary vascular or parenchymal involvement, or syndromic cardiopulmonary disease:
❖ ACADVL, COX15, DKC1, DMD, DOLK, ELAC2, GAA, HPS1, HPS3, HPS4, HPS5, HPS6, LAMP2, MRPL3, MTO1, NDUFAF1, NDUFB11, NKX2-1, SDHA, SERPINA1, SMPD1, SLC22A5, SLC25A20, STING1, TAFAZZIN
Genes Analyzed 232 Cardiopulmonary-related genes.
Technology Platform Illumina NGS (Hybrid-Capture Target Enrichment).
Coverage Metrics >98% bases at ≥20× read depth.
Variant Types Detected SNVs and small indels (≤20 bp) within coding exons ±10 bp intronic boundaries.
Reference Genome GRCh38/hg38.
Bioinformatics Pipeline SeqOne™, ACMG/AMP compliant.
Confirmatory Testing Sanger sequencing or orthogonal method as indicated.
Turnaround Time ~10 calendar days.
Quality Metrics Read quality ≥Q30; allelic balance ≥0.3; minimum coverage 20×.
1.Congenital and Early-Onset Cardiovascular Disease
❖ Clarify the etiology of congenital heart disease (e.g., conotruncal defects, AV canal defects, left-sided obstructive lesions, heterotaxy) in neonates and children with structural heart anomalies
❖ Distinguish isolated cardiac malformations from syndromic or multisystem disorders with important extracardiac implications
❖ Support timing and selection of surgical or catheter-based interventions, perioperative risk assessment, and long-term cardiology follow-up
2.Cardiomyopathy, Channelopathies, and Sudden Cardiac Death Risk
❖ Define molecular causes of hypertrophic, dilated, restrictive, noncompaction, and arrhythmogenic cardiomyopathy in patients with heart failure, ventricular dysfunction, or malignant arrhythmias
❖ Identify ion channel and conduction system disorders (e.g., long QT syndrome, Brugada syndrome, CPVT, progressive conduction disease) in patients with syncope, resuscitated cardiac arrest, or suspicious family history
❖ Guide decisions regarding ICD or pacemaker placement, beta-blocker or antiarrhythmic therapy
3.Pulmonary Arterial Hypertension, Interstitial Lung Disease, and Ciliary Disorders
❖ Identify genetic causes of pulmonary arterial hypertension and pulmonary veno-occlusive disease in patients with unexplained dyspnea, right heart failure, or PAH diagnosed at a young age
❖ Define monogenic surfactant dysfunction, childhood- and adult-onset interstitial lung disease, and telomere biology disorders
❖ Diagnose primary ciliary dyskinesia in patients with chronic sinopulmonary infections, bronchiectasis, or situs abnormalities, supporting tailored respiratory therapies, airway clearance strategies, and fertility counseling
4.Multisystem Syndromes with Cardiopulmonary Involvement and Family Management
❖ Recognize RAS/MAPK, storage, mitochondrial, and other multisystem syndromes where cardiomyopathy, arrhythmia, aortopathy, or lung disease are key components of a broader phenotype
❖ Enable targeted cascade testing of relatives once a pathogenic or likely pathogenic variant is identified, clarifying carrier status, recurrence risk, and need for cardiology or pulmonology surveillance
❖ Integrate germline results with imaging, electrophysiology, pulmonary function testing, and clinical history to build durable, gene-informed care plans that coordinate pediatric and adult cardiology, pulmonology, genetics, and primary care over the patient’s lifespan
Cardiovascular & Pulmonary Disorders testing provides clinically actionable information across cardiology, electrophysiology, cardiothoracic surgery, pulmonology, critical care, medical genetics, pediatrics, and internal medicine, directly influencing diagnosis, risk assessment, surveillance, and treatment strategies.
Risk Stratification and Diagnostic Clarification Identify pathogenic or likely pathogenic variants underlying hereditary cardiomyopathies, channelopathies and conduction disorders, heritable aortopathy and other vascular syndromes, pulmonary arterial hypertension, primary ciliary dyskinesia, monogenic interstitial and surfactant-related lung disease, and syndromic conditions with major cardiopulmonary involvement. Distinguish primary genetic disease from acquired or secondary etiologies, refine differential diagnoses generated by imaging, ECG, catheterization, or lung function testing, and convert “probable” or “suspected” inherited cardiopulmonary disease into a definitive, gene-based diagnosis.
Family Risk Assessment, Cascade Testing, and Reproductive Counseling
Clarify recurrence risk for families and identify at-risk relatives once a familial variant is known, particularly in the context of sudden cardiac death, early aortic dissection, or severe pulmonary hypertension or lung disease. Enable early surveillance and anticipatory guidance in gene-positive but asymptomatic individuals (e.g., echocardiography, cardiac MRI, ECG/ambulatory monitoring, pulmonary vascular and parenchymal imaging), and inform reproductive planning, including options such as prenatal or preimplantation genetic testing when appropriate.
Treatment Selection, Device Strategy, and Therapeutic Optimization
Use genotype to refine decisions regarding ICD or pacemaker implantation, antiarrhythmic or beta-blocker therapy, anticoagulation, pulmonary vasodilator regimens, and timing of surgical or catheter-based interventions for aortic, valvular, or congenital heart disease. Inform thresholds for prophylactic aortic surgery, exercise and occupational restrictions, pregnancy management in heritable aortopathy or cardiomyopathy, and the selection or avoidance of medications that may prolong QT interval, provoke arrhythmia, worsen heart failure, or aggravate pulmonary hypertension or interstitial lung disease in specific genetic backgrounds.
Integrated Longitudinal Cardiopulmonary Care
Support multidisciplinary teams (cardiology, electrophysiology, cardiothoracic surgery, pulmonology, transplant, medical genetics, anesthesiology, and primary care) in building unified, gene-informed care plans that coordinate imaging, electrophysiologic studies, pulmonary function testing, biomarker monitoring, and timing of interventions across the patient’s lifespan. Provide a durable framework for adapting management as guidelines, therapies, and variant classifications evolve, and for managing complex hereditary cardiopulmonary syndromes within affected families through coordinated pediatric-to-adult transition and ongoing cascade testing.
This Cardiopulmonary Disease Panel is best used as part of a multi-dimensional diagnostic strategy, often in combination with:
Pharmacogenetics Testing (for drug metabolism and gene-drug interactions)
Together, these tools enable precision medicine teams to offer a fully customized, data-driven treatment plan for each patient.
Germline testing for inherited cardiopulmonary disease is now a critical component of precision care, allowing clinicians to define the molecular basis of congenital heart disease, cardiomyopathies, primary electrical disorders, heritable aortopathy and vascular syndromes, pulmonary arterial hypertension, primary ciliary dyskinesia, and monogenic interstitial and surfactant-related lung disease with far greater resolution than clinical, imaging, and physiologic assessment alone. With a rigorously curated gene panel, high analytic performance, and clinically validated interpretation, PreCheck Health Services provides the genomic insights necessary to refine diagnosis, stratify sudden death and heart failure risk, guide device and surgical decisions, optimize pharmacologic and lifestyle management, and support cascade testing and reproductive counseling. This integrated approach enables earlier, more precise, and more preventive management across the full spectrum of hereditary and familial cardiopulmonary conditions, improving outcomes for affected patients and at-risk relatives.
The Cardiopulmonary Disease gene panel is designed to detect single-nucleotide variants (SNVs) and small insertions and deletions in 232 genes associated with cardiac and pulmonary disorders. Targeted regions for this panel include the coding exons and 10 bp intronic sequences immediately to the exon-intron boundary of each coding exon in each of these genes. Extracted patient DNA is prepared using targeted hybrid capture, assignment of a unique index, and sequencing via Illumina sequencing by synthesis (SBS) technology. Data is aligned using the human genome build GRCh38. Variant interpretation is performed according to current American College of Medical Genetics and Genomics (ACMG) professional guidelines for the interpretation of germline sequence variants using SeqOne Pipeline.
ABCA3, ABCC8, ABCC9, ACADVL, ACTA2, ACTC1, ACTN2, ACVRL1, ADAMTS10, ADAMTS17, AGL, ALMS1, ALPK3, ANK2, AP3B1, ATP13A3, BAG3, BCOR, BGN, BLOC1S6, BMPR2, BRAF, CACNA1C, CACNA1D, CALM1, CALM2, CALM3, CASQ2, CAV1, CAV3, CBL, CCDC39, CCDC40, CCNO, CFAP298, CFAP300, CFTR, COL3A1, COX15, CPT1A, CPT2, CRELD1, CRYAB, CSF2RA, CSF2RB, CSRP3, DES, DKC1, DMD, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF19, DNAH5, DNAH9, DNAH11, DNAI1, DNAI2, DNAJC19, DNAL1, DOLK, DRC1, DRC2, DSC2, DSG2, DSP, EFEMP2, EIF2AK4, ELAC2, ELN, EMD, ENG, FAM111B, FBLN5, FBN1, FBN2, FHL1, FHOD3, FKRP, FLNA, FLNC, FOXF1, FOXJ1, GAA, GATA4, GATA6, GDF1, GDF2, GJA1, GJA5, GLA, GYG1, HCN4, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HYDIN, JAG1, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNH2, KCNJ2, KCNJ8, KCNK3, KCNQ1, KDR, KRAS, LAMA4, LAMP2, LDB3, LMNA, LOX, LTBP3, LTBP4, LZTR1, MAP2K1, MAP2K2, MED12, MED13L, MFAP5, MRPL3, MTO1, MYBPC3, MYH6, MYH7, MYH11, MYL2, MYL3, MYLK, MYPN, NDUFAF1, NDUFB11, NEXN, NHP2, NOP10, NOTCH1, NOTCH2, NPPA, NR2F2, NRAS, ODAD1, ODAD2, ODAD3, ODAD4, PARN, PKD1L1, PKP2, PLN, PLOD1, POT1, PRDM16, PRKAG2, PRKG1, PTPN11, RAF1, RBM20, RIT1, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, RYR2, SCN1B, SCN2B, SCN5A, SDHA, SERPINA1, SFTPA1, SFTPA2, SFTPB, SFTPC, SGCD, SHOC2, SKI, SLC2A10, SLC7A7, SLC22A5, SLC25A20, SLC34A2, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SMPD1, SOS1, SOS2, SOX17, SPEG, STING1, TAB2, TAFAZZIN, TBX1, TBX4, TBX5, TBX20, TCAP, TERC, TERT, TFAP2B, TGFB2, TGFB3, TGFBR1, TGFBR2, TINF2, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, VCL, ZFPM2, ZIC3, NKX2-1, NKX2-5, NKX2-6
This test aims to detect all clinically relevant variants within the coding regions of the genes evaluated. Pathogenic and likely pathogenic variants detected in these genes should be confirmed by orthogonal methods. Detected genetic variants classified as benign, likely benign, or of uncertain significance are not included in this report. Homopolymer regions and regions outside of the coding regions cannot be captured by the standard NGS target enrichment protocols. Currently, the assay does not detect large deletions and duplications. This analysis also cannot detect pathogenic variants within regions that were not analyzed (e.g., introns, promoter and enhancer regions, long repeat regions, and mitochondrial sequence). This assay is not designed to detect mosaicism and is not designed to detect complex gene rearrangements or genomic aneuploidy events. It is important to understand that there may be variants in these genes undetectable using current technology. Additionally, there may be genes associated with cardiopulmonary pathology whose clinical association has not yet been definitively established. The test may therefore not detect all variants associated with cardiopulmonary pathology. The interpretation of variants is based on our current understanding of the genes in this panel and is based on current ACMG professional guidelines for the interpretation of germline sequence variants. Interpretations may change over time as more information about the genes in this panel becomes available. Qualified health care providers should be aware that future reclassifications of genetic variants can occur as ACMG guidelines are updated. Factors influencing the quantity and quality of extracted DNA include, but are not limited to, collection technique, the amount of buccal epithelial cells obtained, the patient’s oral hygiene, and the presence of dietary or microbial sources of nucleic acids and nucleases, as well as other interfering substances and matrix-dependent influences. PCR inhibitors, extraneous DNA, and nucleic acid-degrading enzymes may adversely affect assay results.
This laboratory-developed test (LDT) was developed, and its performance characteristics were determined by PreCheck Health Services, Inc. This test was performed at PreCheck Health Services, Inc. (CLIA ID: 10D2210020 and CAP ID: 9101993), which is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high complexity testing.
This assay has not been cleared or approved by the U.S. Food and Drug Administration (FDA). Clearance or approval by the FDA is not required for the clinical use of this analytically and clinically validated laboratory-developed test. This assay has been developed for clinical purposes, and it should not be regarded as investigational or for research.
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