Latest Panel Update: Introducing six improved cardiology panels

March 29, 2019

A total of 44 genes have been added to six cardiology panels. This update has taken into account the latest findings in the field and further enhances the clinical utility of these panels.

From discovery to action

The latest scientific evidence and literature was reviewed resulting in clinically relevant, up-to-date and comprehensive diagnostic cardiology gene panels. For example, Blueprint Genetics is one of the first clinical laboratories to offer full analysis of the FHOD3 gene.

“Very recent publications1 show that variants in the FHOD3 gene may explain 1% to 2% of all hypertrophic cardiomyopathy (HCM) cases, making it one of the key players in the diagnostics of cardiomyopathies,” explained Chief Medical Officer and Laboratory Director Juha Koskenvuo.

Recent estimates suggest that HCM may affect as many as 1 in 200 people and is one of the most common causes of sudden cardiac death among young adults.

“We are also very proud to launch updated panels for two highly relevant medical conditions, Noonan syndrome and pulmonary arterial hypertension. The updated panels are of the highest quality on the market and include the latest findings. The addition of the MRAS gene to the Noonan syndrome panel is definitely another highlight of this update,” Koskenvuo continued.

Additionally, the AQP1 and SOX17 genes have been included in the Pulmonary Artery Hypertension (PAH) panel. Despite being relatively new, the evidence supporting the association of these genes with their respective diseases has been promising. Significant changes were also made to the Aorta panel; 11 new genes were added, including LOX, MYLK, and PRKG1, all of which have been suggested to have a definite or strong association to Heritable Thoracic Aortic Aneurysms and Dissections.2

“Blueprint Genetics has analyzed over 13,000 cardiology samples to date. Our extensive database and interpretation experience gives us the potential to uncover novel, interesting discoveries. We have chosen to include a number of genes on our panels in which only a few rare variants have been reported and a disease association has only recently been proposed. Carefully evaluating these genes at an early stage is a way to gain further insight into their contribution to disease,” said Koskenvuo.

A tailored, cautious interpretation approach is taken when variants are identified in ‘early evidence’ genes, as to minimize the reporting of irrelevant variants of uncertain significance (VUS).

The updated panels are:

See the updated panels in more detail here.

Further information

Juha Koskenvuo, chief medical officer and laboratory director,
Juulia Simonen, communication manager,

1. Ochoa JP, Sabater-Molina M, García-Pinilla JM, et al. Formin homology 2 domain containing 3 (FHOD3) is a genetic basis for hypertrophic cardiomyopathy. J Am Coll Cardiol. 2018;72(20):2457-2467. doi:10.1016/j.jacc.2018.10.001
2. Renard M, Francis C, Ghosh R, et al. Clinical validity of genes for heritable thoracic aortic aneurysm and dissection. J Am Coll Cardiol. 2018;72(6):605-615. doi:10.1016/j.jacc.2018.04.089

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