Diabetes
Atypical Diabetes and ER Stress Disorders 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 HNF1B gene is performed when NGS does not identify any pathogenic or likely pathogenic variants.
Endoplasmic Reticulum (ER) Stress Disorders 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.
Hyperinsulinism 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.
Monogenic Diabetes and MODY 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 HNF1B gene is performed when NGS does not identify any pathogenic or likely pathogenic variants.
Permanent Neonatal Diabetes Mellitus (PNDM) 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 HNF1B gene is performed when NGS does not identify any pathogenic or likely pathogenic variants.