Genome Screen Sudden Cardiac Arrest

• Test Code: ON089

Test Description

Sudden Cardiac Arrest Genome Screen is a state-of-the-art gene analysis test that examines 40 genes associated with hereditary heart disease, specifically sudden cardiac arrest and sudden cardiac death, using NGS. Sudden cardiac arrest refers to unexpected death from a cardiac arrest, often caused by hereditary heart conditions. This test aims to prevent, diagnose early, and improve treatment outcomes for hereditary heart disease. Even if individuals with pathogenic variants (PV) linked to hereditary heart disease show no symptoms (reduced penetrance), they have a higher risk compared to the general population, necessitating measures to reduce the risk and regular thorough examinations for early detection. This test utilizes the latest gene analysis techniques and incorporates research findings to provide personalized health information.

Ordering information

• Turnaround time : 14 days
• Specimen : EDTA WB 3m
• Method : NGS
• Required documents : Requisition form, Informed consent form
• Test Process

Assay information

• Test Disease : 14 major diseases (Screen 40 genes with high genetic penetration in 14 major diseases at once)
  • Incidental aneurysm and dissection (Marfansyndrome, Elus-Danrosssyndrome, Roy-Diets syndrome, familial thoracic aortic aneurysm and dissection), hereditary arrhythmia (cardiac long interval syndrome, Brugadasyndrome, catecholaminergicpolymorphic ventricular tachycardia), Hereditary cardiomyopathy (hypertrophic cardiomyopathy, dilated cardiomyopathy, Fabrydisease, arrhythmia-induced right ventricular cardiomyopathy, Emery-Drypussyndrome), hypercholesterolemia (familial hypercholesterolemia, hyperhomocysteine thrombosis), arterial torsion syndrome (arterial Torsion syndrome)

Result

Limitations

• Even if pathogenic variant(PV) is found in genes related to hereditary heart disease, disease does not occur 100%(Reduced Penetrance). The time of onset and clinical patierns of diseases vary widely from person to person.
• The time of onset of hereditary heart disease may occur immediately atier birth if symptoms are severe, but it usually starts in adolescence or early adulthood, and sometimes in late adulthood.
• Hereditary cardiomyopathy and arrhythmia related genes can usually be associated with the clinical patierns of various cardiomyopathy and arrhythmia in a single gene.
• Even if genetic testing related to hereditary heart disease does not identify any disease-related PV, there is still a possibility of heart disease occurrence due to non-hereditary causes such as environmental effects and lifestyle.
• Even if a pathogenic variant is found in disease-related genes, it does not guarantee a 100% occurrence of the disease. The timing and clinical manifestation of disease onset can vary among individuals.
• Even if no pathogenic variant associated with the disease is found, there is still a possibility of disease occurrence due to non-genetic factors such as environmental influences and lifestyle habits.

Verifying more specific details about the Test