Neonatal genetic disease screening

illumina TruSight Cardio Sequencing Kit

Based on NGS, focus on identifying genetic associations for cardiomyopathy. Developed by the Heidi Rehm and Birgit Funke teams at Harvard Medical School's Molecular Medicine Laboratory (LMM) and Personalized Genetic Medicine Partner Healthcare Center (PCPM). Covered 46 hereditary cardiomyopathy-associated genes. Including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), ventricular tachycardia (CPVT), left ventricular myocardium Dense Density (LVNC), etc. In addition, it also covers several syndromes related to cardiomyopathy, including Danon and Fabry disease, Pasteur syndrome, and thyroxin amyloidosis heart disease. Fast and easy sample preparation and enrichment process, the total time is only 1.5 days.
TruSight Inherited Disease
Based on NGS, focus on the research of severe and recessive pediatric onset diseases. It covers 552 genes of 448 pediatric onset diseases, including encoding exons, intron-exon border regions and some regions containing pathogenic mutations. Fast and easy sample preparation and enrichment process, the total time is only 1.5 days.