Cardiopulmonary disorders are a major cause of morbidity and mortality worldwide, with many conditions having a genetic basis. TheCardiopulmonary Genetic Panel offered by PreCheck Health Services is designed to detect pathogenic variants across a spectrum of genes associated with inherited cardiac and pulmonary diseases. This comprehensive panel supports early detection, risk stratification, and personalized treatment strategies for patients with suspected genetic cardiomyopathies, arrhythmias, vascular conditions, and pulmonary syndromes.
This panel is recommended for:
* Individuals with a personal or family history of sudden cardiac arrest or un explained syncope
* Patients with cardiomyopathy, arrhythmia, congenital heart disease, or pulmonary hypertension
* Individuals diagnosed with connective tissue or vascular disorders involving the aorta or lungs
* Family members of patients with known genetic cardiovascular or pulmonary conditions
* Patients undergoing risk assessment prior to participation in high-intensity sports or anesthesia
The Cardiopulmonary Genetic Panel analyzes genes involved in:
- Hypertrophic, dilated, and arrhythmogenic cardiomyopathies
- Channelopathies such as Long QT syndrome and Brugada syndrome
- Pulmonary arterial hypertension and hereditary hemorrhagic telangiectasia
- Vascular connective tissue disorders including Marfan and Loeys-Dietz syndromes
- Disorders of lipid metabolism, thrombosis, and congenital structural defects
The panel includes nuclear genes with established links to cardiac and pulmonary phenotypes. Variant analysis is performed using clinically validated, guideline-compliant interpretation protocols.
* Genes Analyzed: 97 curated immunogenetics targets
*Technology Platform: High-throughput Next-Generation Sequencing (NGS)
* Depthof Coverage: >98% at >20x depth across targeted exons and intronicboundaries
* Bioinformatics Pipeline: Validated with clinical-grade precision; data interpreted using AMP/ACMG guidelines
* Supplemental Testing: Sanger confirmation or additional assays when required
* Turnaround Time: 10 calendar days
The Comprehensive CardioPulmonary Panel is designed to detect single nucleotide variants (SNVs) and small insertions and deletions in 63 genes associated with immunological disorder risk. Targeted regions forthis panel include the coding exons and 10 bp intronic sequences immediate tothe exon-intron boundary of each coding exon in each of these genes. Extractedpatient DNA is prepared using targeted hybrid capture, assignment of a uniqueindex, and sequencing via Illumina sequencing by synthesis (SBS) technology.Datais aligned using human genome build GRCh37. Variant interpretation is performedaccording to current American College ofMedical Genetics and Genomics (ACMG)professional guidelines for the interpretation of germline sequence variantsusing FabricEnterpriseTM Pipeline 6.6.15. Variant interpretation and reportingis performed by Fabric Clinical (CLIA ID: 45D2281059 and CAP ID:9619501)),located at 6901 Quaker Avenue, Suite A, Lubbock, Texas, 79413. The followingquality filters are applied to all variants:quality <500, allelic balance<0.3, coverage <10x.
* Sudden Cardiac Death Risk Assessment
* Arrhythmia and Cardiomyopathy Diagnosis
* Pulmonary Hypertension Genetic Evaluation
* Vascular Connective Tissue Disorder Confirmation
* Pre-Surgical or Athletic Risk Screening
* Cascade Testing for At-Risk Family Members
ACTA2, ACTC1, AGL, APOB, APOE, BMPR2, CACNB2, CAV3, CFTR, COL3A1, DES,DSC2, DSG2, DSP, ENG, F9, FBN1, FHL1, FKRP, FKTN, KCNH2, KCNQ1, LDLR, MECP2,MYBPC3, MYH11, MYH6, MYH7, MYLK, NF1, PCSK9, PHOX2B, PKP2, PLN, PRKAG2, PTPN11,RAF1, RET, RYR1, RYR2, SCN4A, SCNN1A, SCNN1B, SERPINA1, SGCD, SLC22A5, SMAD3,SMAD4, SOS1, STAT3, TAZ, TGFBR1, TGFBR2, TINF2, TMEM43, TNNC1, TNNT2, TPM1,TSC1, TSC2, TTN, TTR, ZEB2
PreCheck Health Services’ Cardiopulmonary Genetic Panel is a vital tool for identifying the genetic basis of complex cardiovascular and pulmonary conditions. With rapid results, deep gene coverage, and clinically actionable reporting, this test enables precision care and proactive risk management for high-risk patients and their families.
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. At this time, the assay does not detect large deletions and duplications. This analysis also cannot detect pathogenic variants within regions which 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 specified disease pathology whose clinical association has not yet been definitively established. The test may therefore not detect all variants associated with specified disease 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 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 HealthServices, Inc. This test was performed at PreCheck Health Services, Inc. (CLIA ID: 10D2210020 and CAP ID: 9101993) that 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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