Update of the Diagnostic Panel for Cardiac Diseases: New overarching gene set for cardiac arrhythmias

The Diagnostic Panel for Cardiac Disease has been revised based on the latest medical findings and expanded with a higher-level gene set for cardiac arrhythmias (HRT-17).

The updated Diagnostic Panel for Cardiac Disease includes 220 genes divided into 13 separately requestable gene sets and covers all known genetic heart diseases. Disease-causing (pathogenic) changes in these genes can indicate whether closer monitoring is needed, lifestyle adjustment is a relevant alternative, or specific therapy is advisable.

Pathogenic variants can cause mechanical heart muscle dysfunction or lead to cardiac arrhythmias. In addition to congenital heart defects, cardiomyopathies, and arrhythmias, the diagnostic panel for cardiac diseases also covers familial hypercholesterolemias and RASopathies, such as Noonan syndrome. CeGaT’s molecular genetic diagnostics can be used to identify a possible genetic cause of these cardiac diseases and enable early testing of asymptomatic family members. Relatives with a genetic predisposition to cardiac disease can then be closely monitored and treated early.

Cardiac arrhythmias are often difficult to distinguish phenotypically. Therefore, as part of the update, we have summarized all phenotypes associated with cardiac arrhythmias into a new gene set (HRT-17).  HRT-17 includes 34 genes and covers the following phenotypes:

  • Atrial fibrillation and short-QT syndrome.
  • Long-QT syndrome
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)
  • Brugada syndrome
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT), paroxysmal/idiopathic ventricular fibrillation/tachycardia

We sequence the whole exome in all our diagnostic panels. Our exome sequencing is based on CeGaT ExomeXtra®, which we developed to generate the best sequencing data for genetic diagnostics. Since CeGaT ExomeXtra® covers all known pathogenic intronic and intergenic variants in addition to all protein-coding regions, it provides an excellent basis for genetic diagnostics.

Further information on our diagnostic panel can be found here.

We will be happy to assist you in selecting the most appropriate diagnostic strategy for your patients. Simply call us at +49 (0) 7071 565 44 55 or send us an e-mail at diagnostic-support@cegat.com.

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