As part of our ongoing commitment to delivering clinically meaningful and actionable genetic insights, we’ve updated our cardiology genetic testing menu to better align with current medical literature, professional guidelines, and the evolving needs of health care professionals.

Historically, our cardiology menu included a wide array of condition-focused panels. While this breadth offered flexibility, it also introduced complexity and redundancy—particularly in areas with significant phenotypic and genetic overlap. Our updated menu addresses this by consolidating panels with overlapping gene content and renaming others to more clearly reflect their clinical scope.

This streamlined approach helps clinicians easily identify the most appropriate test for their patients, while benefiting from panels grounded in the latest research and optimized for diagnostic yield.

Panel integration for broader insight

To better reflect clinical utility and reduce redundancy, we’ve updated and renamed several panels. Most notably, the Comprehensive Cardiology Panel is now the Comprehensive Arrhythmia and Cardiomyopathy Panel.

This recently updated panel includes genes associated with:

• Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
• Atrial Fibrillation Syndrome
• Brugada Syndrome (BrS)
• Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
• Dilated Cardiomyopathy (DCM)
• Hypertrophic Cardiomyopathy (HCM)
• Left Ventricular Noncompaction (LVNC)
• Long and Short QT Syndromes (LQTS, SQTS)

Recent updates include the addition of BAG5, GNB5, MAP3K8, MAPK1, PPA2, RRAS2, and SPRED1, as well as Sanger confirmation of TTN variants in paralogous regions to ensure result accuracy.

Because this panel provides comprehensive coverage of many inherited arrhythmia and cardiomyopathy conditions, several smaller, more narrowly focused panels have been retired to simplify test selection and reduce overlap, including

• Familial Atrial Fibrillation Syndrome Panel (21 genes)
• Left Ventricular Noncompaction (LVNC) Panel (13 genes)
• Short QT Syndrome Panel (7 genes)

Additionally, the Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Panel (17 genes) is now covered by the Marfan Syndrome and Related Aortopathies Panel.

Tailored genetic insights: a range of panel sizes

While some panels have been consolidated, our updated menu continues to support a wide range of cardiovascular conditions, with panels available in multiple sizes, like those below, to suit different testing strategies and clinical scenarios:

• Marfan Syndrome and Related Aortopathies Panel – 40 genes; covers syndromic and non-syndromic causes of thoracic aortic aneurysm and dissection (TAAD)
• Cardiac Arrhythmia Panel – 68 genes; covers ARVC, CPVT, LQTS, BrS, SQTS
• Pan Cardiomyopathy Panel – 117 genes; covers ARVC, LVNC, DCM, HCM
• Comprehensive Arrhythmia and Cardiomyopathy Panel – 169 genes; covers full spectrum of arrhythmias and cardiomyopathies
• PGmax™ – Comprehensive Congenital Heart Disease Panel – 509 genes; covers syndromic and non-syndromic CHDs, includes exome-wide CNV detection

Making sense of larger panels: how the PGmax™ panel reduces uncertainty

As part of our broader effort to streamline testing and reduce diagnostic uncertainty, the PGmax – Comprehensive Congenital Heart Disease Panel demonstrates how even large, comprehensive panels can deliver focused, clinically actionable results when guided by phenotype-driven interpretation.

With 509 genes and exome-wide copy number variant (CNV) detection, the panel offers a uniquely powerful approach to the molecular diagnosis of both syndromic and non-syndromic congenital heart diseases.

However, a common misconception is that broader panels lead to a higher rate of variants of uncertain significance (VUS). In reality, our PGmax panel is designed to function more like a phenotype-driven exome test. Health care professionals submit detailed phenotypic information with their orders, and our team evaluates all variants in that context—reporting only those that are clearly relevant.

This strategy significantly reduces the number of VUS reported,¹ helping health care professionals make clearer, more confident decisions.

Simplifying cardiovascular genetic testing with smarter, more streamlined testing

These updates reflect our ongoing effort to simplify the genetic testing landscape while expanding clinical value. By consolidating overlapping panels, refining test names, and including broader, phenotype-driven options like our PGmax panel, we’re helping clinicians approach inherited cardiovascular conditions with greater clarity and confidence.

Whether you're managing a straightforward arrhythmia or a complex congenital heart condition, our updated test menu is designed to support you with precision and flexibility.

Explore the full cardiology test menu to find the right panel for your patients’ needs.

References

1. Rehm et al. 2023. PubMed ID: 37534744