Getting to the heart of inherited cardiac diseases
Molecular genetic testing is highly recommended for the diagnosis of inherited cardiac diseases to guide prognosis and treatment. The Extended Cardio Solution (ExtCAS) and Cardio Solution (CAS) by SOPHiA GENETICS are molecular diagnostic applications that bundle a capture-based target enrichment kit with the analytical power of SOPHiA™ AI and full access to the SOPHiA DDM® platform.
ExtCAS and CAS offer excellent coverage of respectively 128 and 31 most relevant genes with known associations to hereditary heart diseases, covering a wide range of arrhythmias and cardiomyopathies disorders.
These solutions enable accurate detection of SNVs, Indels and CNVs in all genes of the panel. In addition, variants are pre-classified following ACMG guidelines in addition to SOPHiA’s prediction, thus facilitating clinical interpretation.
Benefits of the solution
Detection of all type of variants in 128 (ExtCAS) or 31 relevant genes (CAS) associated with arrhythmias and cardiomyopathies.
Clinical-grade analytical performance
Compatible with market-leading sequencing platforms without any impact on performance. The gene panel can also be adapted according to experts' needs
The library preparation step can be fully automated, for high throughput needs, without impacting data quality
Extended Cardio Solution gene panel
ABCC9, ACTA1, ACTC1, ACTN2, AKAP9, ALPK3, ANK2, ANKRD1, APOA1, ATP2A2, BAG3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV3, CHRM2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FGF12, FHL1, FHL2, FKTN, FLNC, GAA, GATA4, GATA6, GATAD1, GJA1, GJA5, GJC1, GLA, GPD1L, HCN4, HEY2, HFE, JPH2, JUP, KCNA5, KCNAB2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMA4, LAMP2, LDB3, LMNA, MOG1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NKX2.5, NOS1AP, NPPA, NUP155, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RBM20, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SGCD, SLC8A1, SLMAP, SNTA1, STRN, SURF1, TAZ, TBX20, TBX5, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TRPM7, TTN, TTR, VCL