In October 2019, a total of 86 new genes were added to 16 updated cardiology panels. The update takes into account the latest findings in the field and customer requests in order to meet the needs of providers, and increase the diagnostic potential of panels.
Our knowledge of the genetics of inherited cardiovascular diseases is growing at a rapid pace. New gene discoveries, broadening of the phenotypic spectrum of these conditions and published, evidence-based recommendations are shaping how genetic testing is being utilized.
Panels have been updated to increase the likelihood of identifying a diagnosis by incorporating:
- Early, but promising evidence genes
- A significant number of syndromic genes
- Genes curated and recommended by experts in the field
- Feedback and requests from customers
“One of the highlights of this update is the 53 added genes to our Congenital Structural Heart Disease Panel. The goal of this panel update is to expand differential diagnostics of congenital heart defects to catch those cases where syndromic features may be mild or are considered to represent other disease entity. In these cases, genetic testing enables well-informed genetic counseling based on precise molecular diagnosis and inheritance of the disease. It also helps arranging all relevant follow-ups and estimating disease course. We added new, mainly syndromic genes such as FOXP1, HAND2, MYRF”, says Laboratory Director Juha Koskenvuo,” said Laboratory Director Juha Koskenvuo.
Included amongst these 53 genes are causes for syndromic congenital heart defects such as Kabuki syndrome, Cornelia de Lange, Rubinstein-Taybi, the RASopathies, and many more. These disorders can range in their severity making them challenging to diagnose, especially in newborns.
“Another highlight is adding two new promising disease genes LEMD2 and KLHL24 to our cardiomyopathy panels, further enhancing their diagnostic potential, as further evidence has been published regarding their association to inherited cardiomyopathies,” Koskenvuo continued.
Additionally, Blueprint Genetics Arrhythmogenic Right Ventricular Cardiomyopathy Panel now includes all genes that have been recommended to be analyzed in patients with Arrhythmogenic Cardiomyopathy by the recent Heart Rhythm Society Arrhythmogenic Cardiomyopathy Expert Consensus Statement).1
During the panel update, a total of 500 new, clinically relevant noncoding variants were added to the recently launched, improved assay for panels. The addition of deep intronic variants further enhances the diagnostic capabilities in cardiology. For example, the Comprehensive Cardiology Panel includes 196 noncoding variants.
Full list available at https://blueprintgenetics.com/tests/panels/cardiology/comprehensive-cardiology-panel/. During the update, some genes were also removed from the Brugada Syndrome Panel based on limited or disputed evidence such as CAV3 and SCN1B genes to minimize the reporting of clinically irrelevant findings.
In short:
- A total of 86 new genes added to 16 cardiology panels.
- The update included 34 unique new genes.
- The new improved clinical-grade NGS assay for panels includes over ~2000 clinically relevant, deep intronic variants. Read more about the improved assay for panels here.
- High resolution copy number variant detection included.
Read more about the updated cardiology panels.
References
Towbin J., McKenna W., Abrams D. et al. HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm 2019 Nov;16(11):e301-e372. doi: 10.1016/j.hrthm.2019.05.007.