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This comprehensive panel enables early detection, risk stratification, and the development of personalized treatment strategies for patients with suspected genetic cardiomyopathies, arrhythmias, vascular diseases, and pulmonary syndromes.
This panel is recommended for:
Individuals with a personal or family history of sudden cardiac arrest or unexplained syncope
Patients with cardiomyopathy, arrhythmia, congenital heart disease, or pulmonary hypertension
Individuals diagnosed with connective tissue or vascular disorders affecting the aorta or lungs
Family members of patients with known genetic cardiovascular or pulmonary conditions
Patients undergoing risk assessment prior to participating 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
Connective tissue and vascular disorders, including Marfan and Loeys-Dietz syndromes
Lipid metabolism disorders, thrombosis, and congenital structural defects
The panel includes nuclear genes with established associations to cardiac and pulmonary phenotypes. Variant analysis is performed using clinically validated interpretation protocols in compliance with current clinical guidelines.
Genes analyzed: 97 selected immunogenetic targets
Technology platform: High-throughput next-generation sequencing (NGS)
Coverage depth: >98% at >20x depth across specific exons and intronic boundaries
Bioinformatics process: Clinically validated with high analytical accuracy; data interpreted according to AMP/ACMG guidelines
Complementary testing: Sanger confirmation or additional assays performed when necessary
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. The target regions of this panel include coding exons and the 10 bp intronic sequences immediately adjacent to each exon–intron boundary.
Workflow and Technology:
Patient DNA is prepared using targeted hybrid capture, assigned a unique index, and sequenced using Illumina’s sequencing-by-synthesis (SBS) technology. Data are aligned to the human genome build GRCh37.
Variant Interpretation:
Variant interpretation follows the current professional guidelines of the American College of Medical Genetics and Genomics (ACMG) for germline sequence variant classification, using the FabricEnterprise™ Pipeline 6.6.15.
Interpretation and reporting are performed by Fabric Clinical (CLIA ID: 45D2281059, CAP ID: 9619501), located at 6901 Quaker Avenue, Suite A, Lubbock, Texas, 79413.
Quality Filters Applied:
Variant quality <500
Allelic balance <0.3
Coverage <10x
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
The Genuvi Cardiopulmonary Genetic Panel is a vital tool for identifying the genetic basis of complex cardiovascular and pulmonary diseases. With rapid results, broad genetic coverage, and clinically actionable reports, this test enables precise care and proactive risk management for high-risk patients and their families.
This test is designed to detect all clinically relevant variants within the coding regions of the evaluated genes. Pathogenic and likely pathogenic variants identified in these genes should be confirmed by orthogonal methods. Genetic variants classified as benign, likely benign, or of uncertain significance (VUS) are not included in this report.
Technical Limitations:
Homopolymeric regions and areas outside the coding regions cannot be captured using standard NGS target enrichment protocols. At this time, the assay does not detect large deletions or duplications. It also cannot identify pathogenic variants located in regions not analyzed (e.g., introns, promoter and enhancer regions, long repeats, or mitochondrial sequences).
This assay is not designed to detect mosaicism, complex genetic rearrangements, or genomic aneuploidy events. It is important to note that there may be variants in these genes that remain undetectable with the current technology. Additionally, there may be genes associated with specific pathologies whose clinical relevance has not yet been fully established. Therefore, the test may not detect all variants associated with a particular disorder.
Interpretation and Reporting:
Variant interpretation is based on current knowledge of the genes included in this panel and the latest ACMG professional guidelines for germline sequence variant classification. Interpretations may change over time as new information about these genes becomes available.
Healthcare professionals should be aware that future reclassification of genetic variants may occur as ACMG guidelines are updated. Factors affecting the quantity and quality of extracted DNA include, but are not limited to, collection technique, amount of buccal epithelial cells obtained, patient oral hygiene, and the presence of dietary or microbial sources of nucleic acids and nucleases, as well as other interfering substances or matrix-dependent effects.
PCR inhibitors, foreign DNA, and nuclease activity may adversely impact assay performance and results.
Regulatory Disclosures:
This laboratory-developed test (LDT) was designed and its performance characteristics were determined by Genuvi. The test is performed at Genuvi, a laboratory 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). FDA clearance or approval is not required for the clinical use of this analytically and clinically validated laboratory test. The assay has been developed for clinical purposes only and should not be considered for research use.
References:
Vankeerberghen A, Wei L, Jaspers M, Cassiman JJ, et al. Human Molecular Genetics. October 1998. Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. (PMID: 9736778)
Billet A, Melin P, Jollivet M, Mornon JP, et al. The Journal of Biological Chemistry. July 16, 2010. The C-terminal end of the nucleotide-binding domain 1 contains critical features for trafficking and activation of the cystic fibrosis transmembrane conductance regulator. (PMID: 20435887)
Marion H, Natacha G, Brigitte M, François C, et al. Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society. May 2015. The p.Gly622Asp (G622D) mutation, frequent in Réunion Island and Black populations, is associated with a wide spectrum of cystic fibrosis (CF) and CFTR-related disorder (CFTR-RD) phenotypes. (PMID: 25443471)
Raraigh KS, Han ST, Davis E, Evans TA, et al. American Journal of Human Genetics. June 7, 2018. Functional assays are essential for interpretation of missense variants associated with variable expressivity. (PMID: 29805046)
