Hereditary arrhythmias are heterogeneous conditions characterized by high clinical and genetic variability.
Genetic testing for arrhythmias is recommended by all major international cardiology organizations (ESC, ACC, AHA, HFSA, HRS) to support diagnosis, prognosis, and personalized clinical management of patients with inherited arrhythmogenic syndromes.
GENOSOPHY® Arrhythmia Genetic Panel
This panel analyzes 62 genes associated with channelopathies and cardiomyopathies with arrhythmogenic phenotypes, offering:
- Accurate diagnosis in cases with atypical clinical presentation
- Sudden cardiac death (SCD) risk assessment through the identification of pathogenic variants
- Treatment guidance, including decisions regarding antiarrhythmic therapy, implantable cardioverter-defibrillators (ICDs), or pacemakers
- Detection of pathogenic variants in relatives via targeted genetic testing
Conditions Covered by GENOSOPHY® Genetic Testing
Channelopathies:
- Long QT Syndrome (LQTS)
- Brugada Syndrome
- Short QT Syndrome (SQTS)
- Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Arrhythmogenic Cardiomyopathies:
- Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
- Other cardiomyopathies associated with arrhythmias
Clinical Benefits
Diagnosis:
- Supports differential diagnosis, especially in cases with atypical or overlapping features
- Avoids unnecessary invasive diagnostic procedures
Prognosis:
- Assesses the risk of sudden cardiac death and determines preventive strategies
- Evaluates disease aggressiveness and predicts its natural course, aiding treatment decisions
Management:
- Guidance on avoiding medications that could worsen the arrhythmogenic phenotype (e.g., QT-prolonging or certain antiarrhythmic drugs)
- Personalized approach for selecting ICD or pacemaker implantation in high-risk patients
- Family-level preventive planning and tailored interventions
Process
The process is simple and includes:
- Collection of a blood or saliva sample
- Analysis of 62 genes using next-generation sequencing (NGS)
- Results available in approximately 5 weeks
Expert consultation and explanation of results by professors from the Medical School of the National and Kapodistrian University of Athens (NKUA) is available as an additional service.
Genes Included in the Panel
ABCC9, AKAP9, ANK2, BAG3, CACNA1C*, CACNB2, CALM1*, CALM2, CALM3, CASQ2, CAV3, CDH2, CTNNA3, DBH, DES, DSC2, DSG2, DSP, FLNC*, GATA6, HADHA, HCN4, JUP, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, LDB3, LEMD2, LMNA, MYH6, MYH7, MYL4, NKX2-5, NOS1AP, NUP155, PKP2*, PLN, PPA2, PRKAG2, RBM20, RYR2, SALL4, SCN10A, SCN1B, SCN3B, SCN5A, SLC12A3, TANGO2, TBX5, TECRL, TGFB3, TMEM43, TNNI3, TNNI3K, TNNT2, TRDN, TRPM4, TTN**
Note: In addition to full exon sequencing of the listed genes, GENOSOPHY®’s genetic test analyzes dozens of variants in non-coding regions such as promoters and introns. Detection sensitivity for single nucleotide variants (SNVs), indels, and CNVs exceeds 99%. Sensitivity for detecting variants in genes marked with an asterisk (*) may be slightly lower.
