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Surpassing the limits of
genetic diagnosis in cardiology
We will tell you how at the ESC Congress 2023
¿Preparados para traspasar los límites de la genética?
This year at the Cardiology Department of Health in Code, we have increased the number of genes in our panels, decided to sequence fully a number of genes that are of great importance when diagnosing inherited heart diseases, and expanded the analysis to deep intronic regions of many others. We have also begun working with large pharmaceutical companies on programs to provide diagnostic and screening support to patients, collaborated on clinical trials, and continue to develop training programs on cardiogenetics. And last but not least, we have installed the first Illumina NovaSeq X Plus in Spain, which has the capacity to sequence 20,000 entire genomes in one year.
All this and much more at the ESC Congress 2023. We will again appear as European leaders in cardiovascular genetics, to bring genomics closer to specialists and companies so that it can be integrated into their diagnostic processes. Let us show you how we turn effort into progress year after year. See you in Amsterdam!
Discover at #ESC2023 our innovations in genomic diagnostics and other multiomics areas.
This study sought to investigate the association between TBX20 gene truncating variants (TBX20tv) and dilated cardiomyopathy/left ventricular non-compaction cardiomyopathy (DCM/LVNC). TBX20 was sequenced by NGS in 7,463 unrelated probands with DCM/LVNC, 22,773 internal controls and 124,098 external controls.
TBX20tv are associated with DCM/LVNC along with a non-aggressive phenotype and low incidence of major cardiovascular events. Therefore, TBX20 should be routinely included in genetic testing panels for DCM and LVNC.
We aimed to determine the percentage of cases in which genetic CNVs have been identified as the cause of dilated cardiomyopathy (DCM) in a large cohort of patients. We conducted a retrospective study in which the presence of CNVs was evaluated by NGS in a cohort of patients diagnosed with DCM. In this cohort, 1.02% harbored CNVs considered pathogenic/likely-pathogenic. These results shows that systematic CNVs analysis in NGS studies improves the performance of genetic testing in DCM and highlights the importance of structural variant detection in the diagnosis of the disease.
We aimed to determine whether carriers of p.Asn271Ile variant in the TNNT2 gene share a common haplotype, to estimate the age of the mutation and describe its association with hypertrophic cardiomyopathy (HCM). The variant was significantly enriched in HCM probands (0.39%) compared to internal non-HCM controls (0.02%). Most probands came from the northwest of Spain (Galicia), which suggested that they may share a common origin. We demonstrated a founder effect of the pathogenic variant p.Asn271Ile, arising 650 years ago aprox. The clinical behavior in carriers of this cohort is relatively benign compared to other variants in this gene and to the main genetic cause of HCM (null variants in MYBPC3 gene).
This study sought to perform a genotype-phenotype correlation analysis between ALPK3 gene null variants (ALPK3nv) –frameshift, nonsense and splice-site predicted frameshift variants– in simple heterozygosis and hypertrophic cardiomyopathy (HCM). ALPK3 was sequenced by NGS in 16,780 probands of whom 6,505 were referred with a HCM phenotype. ALPK3nv in simple heterozygosis can explain 1.7% of HCM. They were associated with late-onset disease, especially in females, predominance of apical and/or concentric forms, and a phenotype that was not particularly severe.
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