Comprehensive Genetic Testing for Cardiovascular Diseases

Cardiovascular diseases are the leading cause of morbidity and mortality worldwide and have a strong genetic component. GENOSOPHY® offers a comprehensive genetic panel for cardiovascular conditions, with significant clinical utility in differential diagnosis, risk assessment, and targeted therapeutic intervention.

The Comprehensive Cardiology Panel by GENOSOPHY® analyzes 260 genes using Next Generation Sequencing (NGS), providing an extensive genetic evaluation for channelopathies, cardiomyopathies, arterial hypertension, dyslipidemia, and atherosclerosis. It also includes mitochondrial genome analysis to detect rare mitochondrial cardiomyopathies.

The panel aligns with the guidelines of all major international cardiology societies, such as the American College of Cardiology (ACC), American Heart Association (AHA), European Society of Cardiology (ESC), Heart Failure Society of America (HFSA), and the Heart Rhythm Society (HRS). These organizations recommend genetic testing to support diagnosis, prognosis, and personalized management of inherited cardiovascular disorders and arrhythmogenic syndromes.

Who Should Consider Genetic Testing?

The Comprehensive Cardiology Panel is recommended for:

Patients with a clinical diagnosis of cardiovascular disease of unknown cause
Individuals with a family history of heart failure, sudden cardiac death, or early-onset atherosclerosis
Patients with recurrent arrhythmias, syncope episodes, or unexplained cardiac events
Young athletes or individuals predisposed to cardiac complications
Individuals undergoing treatment for hypertension or dyslipidemia who seek a personalized pharmacogenetic approach

Conditions Covered by the GENOSOPHY® Panel

The test includes genes related to:

Coronary Artery Disease & Atherosclerosis – Genetic risk factors for heart attack and vascular disease
Inherited Arrhythmias – Long QT Syndrome, Brugada Syndrome, CPVT
Cardiomyopathies – Hypertrophic, Dilated, Arrhythmogenic, and LVNC
Hypercholesterolemia & Lipid Disorders – Familial hypercholesterolemia, dyslipidemias
Arterial Hypertension – Genetic contributors to blood pressure regulation
Mitochondrial Heart Diseases – Mutations in mitochondrial DNA linked to rare cardiomyopathies

Clinical Benefits

Diagnosis

Accurate genetic investigation for overlapping cardiovascular phenotype
Supports differential diagnosis of cardiomyopathies, channelopathies, and vascular disease
Detection of inherited forms of hypertension and lipid disorders

Prognosis

Evaluation of sudden cardiac death risk
Prediction of disease progression and risk profile determination

Management

Guidance on personalized treatment (e.g., beta-blockers, antiarrhythmic agents, ICD implantation)
Pharmacogenetic strategies for hypertension and dyslipidemia
Cascade screening for at-risk family members and medical follow-up

Testing Procedure

Sample collection (blood or saliva)
Whole exome analysis of 260 genes using NGS
Results delivered in 5–6 weeks

Expert consultation and explanation of genetic results by professors from the National and Kapodistrian University of Athens (NKUA) is available as an additional service.

Genes Included in the Panel

AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTA2, ACTC1, ACTN2, AGK, AGL, AGPAT2, AKAP9, ALMS1*, ALPK3, ANK2, ANO5, APOA1, ATPAF2, BAG3, BRAF*, CACNA1C*, CACNA1D, CACNB2, CALM1*, CALM2, CALM3, CALR3, CAPN3, CASQ2, CASZ1, CBL, CDH2, CHKB, CHRM2, COX15, CPT2, CRYAB, CSRP3, CTNNA3, DBH, DES, DMD, DNAJC19, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, DYSF, EEF1A2, ELAC2, EMD, ENPP1, EPG5, ETFA, ETFB, ETFDH, FAH, FBXL4, FBXO32, FHL1*, FHOD3, FKRP, FKTN, FLNC*, FOXD4*, FOXRED1, FXN*, GAA, GATA4*, GATA6, GATAD1, GATC*, GBE1, GFM1, GLA, GLB1, GMPPB, GNB5, GSK3B, GTPBP3, GUSB*, HADHA, HAND1, HAND2, HCN4, HFE, HRAS, IDUA, ILK, ISPD, JPH2, JUP, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, KLHL24, KRAS*, LAMA2, LAMP2, LARGE, LDB3, LEMD2, LMNA, LMOD2, LRRC10, LZTR1, MAP2K1, MAP2K2, MAP3K8, MIPEP*, MLYCD, MRPL3*, MRPL44, MRPS22, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTO1*, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYL4, MYO18B, MYOT, MYPN, MYRF, NDUFAF2, NDUFB11, NEXN, NF1*, NKX2-5, NONO, NOS1AP, NRAP, NRAS, NUP155, PARS2, PCCA, PCCB*, PKP2*, PLEC, PLEKHM2, PLN, PNPLA2, POMT1, PPA2, PPCS, PPP1CB, PRDM16, PRKAG2, PTPN11, QRSL1, RAF1, RASA2, RBCK1, RBM20, RIT1, RMND1*, RRAS, RYR2, SALL4, SCN10A, SCN1B, SCN3B, SCN5A, SCNN1B, SCNN1G, SCO1, SCO2, SDHA*, SELENON*, SGCA, SGCB, SGCD, SGCG, SHOC2, SLC12A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SMCHD1, SOS1, SOS2, SPEG, SPRED1, STAG2, TAB2, TANGO2, TAZ, TBX20*, TBX5, TCAP, TECRL, TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRIM32, TRPM4, TSFM*, TTN*, TTR, VARS2, VCL, VCP, VPS13A, XK**

Note: In addition to the coding regions (exons), the test analyzes dozens of variants in non-coding regions (e.g., promoters, introns). Detection sensitivity for SNVs, indels, and CNVs exceeds 99%. Sensitivity may be slightly reduced in genes marked with an asterisk (*).