Cardiac disease

Arrhythmia panel | NGS

Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing. aCGH send out testing for the KCNH2, KCNQ1, RYR2 and TRDN genes is performed when NGS does not identify any pathogenic or likely pathogenic variants.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) Panel | NGS

Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing. aCGH send out testing for the DSP and PKP2 genes is performed when NGS does not identify any pathogenic or likely pathogenic variants.

Brugada Syndromes panel | NGS

Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing.

Cardiac Diseases Gene panel | NGS

Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing. aCGH send out testing for the ALMS1, BGN, DSP, KCNH2, KCNQ1, PKP2, RYR2 and TRDN genes is performed when NGS does not identify any pathogenic or likely pathogenic variants.

Cardiomyopathy panel | NGS

Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing. aCGH send out testing for the ALMS1, DSP and PKP2 genes is performed when NGS does not identify any pathogenic or likely pathogenic variants. 

Catecholaminergic polymorphic ventricular tachycardia (CPVT) panel

Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing. aCGH send out testing for the RYR2 and TRDN genes is performed when NGS does not identify any pathogenic or likely pathogenic variants.

Dilated cardiomyopathy (DCM) panel | NGS

Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing. aCGH send out testing for the ALMS1 gene is performed when NGS does not identify any pathogenic or likely pathogenic variants.

Familial Thoracic Aortic Aneurysm and Dissection panel | NGS

Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing. aCGH send out testing for the BGN gene is performed when NGS does not identify any pathogenic or likely pathogenic variants.Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing. aCGH send out testing for the BGN gene is performed when NGS does not identify any pathogenic or likely pathogenic variants.

Hypertrophic cardiomyopathy (HCM) panel | NGS

Long QT Syndromes panel | NGS

Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing. aCGH send out testing for the KCNH2 and KCNQ1 genes is performed when NGS does not identify any pathogenic or likely pathogenic variants.