Cardiology

Required Documents for Cardiology Testing

Helpful Documents for Cardiology Testing

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.

Acceptable sample types include whole blood samples and buccal (cheek) swabs. 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.

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

Aortopathy Comprehensive Panel: 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: 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: ACTC1, ALMS1, BRAF, CBL, CRELD1, ELN, HRAS, JAG1, KRAS, MAPK2K1, MAPK2K2, MYH6, NKX2-5, NODAL, NOTCH1, NRAS, PTPN11, RAF1, SALL4, SCN5A, SHOC2, SOS1, TBX5, ZIC3

Familial Hypercholesterolemia: APOA4, APOA5, APOB, CETP, CREB3L3, GCKR, GPIHBP1, HADHA, LDLR, LDLRAP1, LMF1, LPL, PCSK9, SREBF2, ZHX3