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.

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.

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.

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.

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. 

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.

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.

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.

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.