CARDIAC DISEASES
Cardiac diseases encompass genetically determined disorders that affect the structure and function of the heart. These include cardiomyopathies such as arrhythmogenic, dilated, and hypertrophic cardiomyopathy, as well as Brugada syndrome and long QT syndrome, which increase the risk of cardiac arrhythmias and sudden cardiac arrest.
Request Test
- Sample material: EDTA whole blood
- Testing methods: Next-generation sequencing (if applicable, Sanger sequencing, MLPA, molecular diagnostics using PCR)
- Turnaround time: from 2 weeks
- Required documents:
Detailed information on sample submission can be found here.
DIAGNOSTIC SERVICES
The following table presents our indication-specific testing services in this area:
| INDICATION | ANALYSIS |
| Arrhythmogenic cardiomyopathy (ACM) | Gene panel |
| Brugada syndrome | Single gene analysis (SCN5A) |
| Dilated cardiomyopathy (DCM) | Gene panel |
| Hypertrophic cardiomyopathy (HCM) | Gene panel |
| Catecholaminergic polymorphic ventricular tachycardia (CPVT) | Gene panel |
| Left ventricular noncompaction cardiomyopathy (LVNC) | Gene panel |
| Long QT syndrome (LQTS) | Gene panel |
| Sudden cardiac arrest | Gene panel |
| Short QT syndrome (SQTS) | Gene panel |
The genes analyzed in the respective gene panels are always based on the current versions of Genomics England PanelApp, PanelApp Australia, the OMIM Phenotypic Series, and the entries from GeneReviews.
If the suspected diagnosis or indication is not listed here, or if it involves a complex syndromic clinical presentation, it is possible to request exome sequencing based on phenotypic features.