Detecting Inherited Heart Diseases: Cardiology NGS Genetic Testing
Stay ahead of your health
We offer hereditary cardiology next generation sequencing (NGS) to help healthcare professionals identify genetic mutations that may increase the risk of patients developing heart disease. Our testing can uncover inherited conditions that may affect multiple family members, allowing for early detection, prevention, and personalized treatment plans. With cutting-edge technology and a team of experts, our hereditary cardiology testing provides quick and accurate results. We are committed to providing exceptional customer service, and our team of genetic counselors is available to answer any questions and provide support throughout the testing process. Trust us to provide reliable and comprehensive hereditary cardiology testing for your patients and their families.
In relation to cardiology, the purpose of next generation sequencing (NGS) DNA testing is to determine if a patient carries any mutations that lead to an increased risk of developing cardiovascular disease.
Five different subpanels, plus the comprehensive panel, are available and screen up to 174 genes involved in cardiovascular disease. Genes included on this test may be associated with several different types of cardiovascular disease and varying levels of cardiovascular disease risk. All genes in this panel are implicated in at least one form of cardiovascular disease and are associated with increased lifetime cardiovascular disease risk(s), although a patient’s overall risk may differ depending on the gene and the mechanism of the associated condition. If a patient is found to carry a mutation/variant in any of the genes analyzed, this may also have implications for the patient’s family members, which should be discussed with the healthcare provider.
Specimen Requirements: A buccal (cheek) swab provided by Genesys Diagnostics (OraCollect Dx; DNA Genotek Buccal Swab), or a whole blood sample (~5 mL) in a lavender top (K2EDTA) collection tube.
Test result types include:
Positive: A mutation is identified in a gene(s) associated with increased cardiovascular disease susceptibility. This may indicate that the patient is at an increased risk of developing cardiovascular disease, with the specific type of depending on the gene(s) involved. The healthcare provider will make screening and medical management recommendations based on what is known about the gene(s) in which the mutation was found.
Negative: No mutations are found in the genes tested. This may be indicative of a reduced likelihood that the patient has a mutation in the gene(s) tested but could also be a limitation of testing. The healthcare provider will make screening and medical management recommendations based on the patient’s personal and/or family history.
Variant: A variant is identified in one or more genes; however, there is not enough information to determine whether this change is associated with an increased risk of cardiovascular disease. A thorough review of the variant and associated literature may suggest that a variant is more likely to be either disease-causing or benign. However, in some cases, the significance remains unclear. The healthcare provider will make cancer screening and medical management recommendations based on the patient’s personal and/or family history.
Full Cardiology Panel: All 174 genes listed below
Aortopathy Comprehensive Panel (24 genes): ACTA2, ABCG5, ABCG8, APOC2, APOE, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, HCN4, MYH11, MYLK, NOTCH1, SLC2A10, SMAD3, SMAD4, TBX20, TGFB2, TGFB3, TGFBR1, TGFBR2
Arrhythmia and Cardiomyopathy Comprehensive Panel (134 genes): ABCC9, ACTA1, ACTC1, ACTN2, AKAP9, ALMS1, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNA2D1,CACNB2, CALM1, CALR3, CASQ2, CAV3, CBL, CBS, COX15, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FHL2, FKRP, FKTN, FXN, GAA, GATAD1, GJA5, GLA, GPD1L, HCN4, HFE, HRAS, HSPB8, ILK, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KLF10, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LMNA, LTBP2, MAP2K1, MAP2K2, MIB1, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOZ2, MYPN, NEXN, NKX2-5, NPPA, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PRKAR1A, PTPN11, RAF1, RANGRF, RBM20, RYR1, RYR2, SALL4, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SEPN1, SDHA, SGCB, SGCD, SGCG, SHOC2, SLC25A4, SNTA1, SOS1, TAZ, TBX3, TBX5, TBX20, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, TXNRD2, VCL, ZBTB17
Congenital Heart Disease Panel (24 genes): ACTC1, ALMS1, BRAF, CBL, CRELD1, ELN, HRAS, JAG1, KRAS, MAP2K1, MAP2K2, MYH6, NKX2-5, NODAL, NOTCH1, NRAS, PTPN11, RAF1, SALL4, SCN5A, SHOC2, SOS1, TBX5, ZIC3
Turnaround time for this test is 3-6 weeks after prior authorization.
Cardiology NGS Panels
Click each gene for more information
Limitations: Certain regions in various genes have poor coverage and are not included in the panel (if you would like more coverage information regarding any specific genes of interest, please contact Genesys Diagnostics Inc.). All genes that have pseudogenes will have poorer performance on the MiSeq instrument. Variants in genes with their pseudogenes may not be reliably detected. DNA alterations in regions not covered by this test such as deep intronic or regulatory regions, or in poorly covered regions will not be detected using Next Generation Sequencing analysis. There are technical limitations on the ability of Next Generation Sequencing to detect small insertions and deletions and these types of alterations are not detected as reliably as single nucleotide variants. This assay is not designed or validated for the detection of low level mosaicism or somatic mutations. This assay will not detect certain types of genomic aberrations such as translocations, inversions, or repeat expansions. Large deletions or duplications may be identified, but not guaranteed to be detected by this test. Rare diagnostic errors can result from incorrectly assigned specimens (e.g. sample mixup), family relationships (e.g. nonpaternity), or DNA alterations (e.g. DNA variant under a primer or probe binding site and the presence of pseudogene artifacts).Additionally, the classification and interpretation of variants reported reflects the current state of scientific understanding at the time this report is issued. It is possible that a particular genetic abnormality may not be recognized as the underlying cause of the genetic disorder due to incomplete scientific knowledge about the function of all genes in the human genome and the impact of variants in those genes.