ResourceClinical Diagnostics
Whole genome sequencing is driving improved health outcomes for newborns
27 Sept 2024Millions of people (many of them infants and young children) suffer from misdiagnosed or undiagnosed diseases due to insufficient genetic testing. Whole genome sequencing (WGS) has the potential to streamline genetic assessments and help provide early intervention.
In this case study, Revvity assesses the clinical utility of genome sequencing versus a gene panel for a curated set of medically actionable pediatric-onset conditions in the largest-to-date cohort of apparently healthy newborns and children tested at a single clinical laboratory.
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chemagic 360
RevvityThe chemagic™ chemagic 360 instrument is a flexible compact solution for automated nucleic extraction from diverse sample materials.
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Genome AnalysisGenomics, the study of genomes, includes functional genomics, evolutionary genomics and comparative genomics. There are many genomic technologies such as DNA sequencing of whole genomes, computational biology and bioinformatics. DNA and nucleic acids must be isolated and concentrated from cells for analysis with kits, automated analyzers and software. Other useful technologies for studying genomics include PCR, microarrays and electrophoresis.DNA SequencingDNA sequencing, such as sanger sequencing, is a biological technique that determines the precise order of nucleotide bases in a fragment or template of DNA. DNA sequencers and genetic analyzers are based on capillary electrophoresis, where labeled DNA fragments are electrophoretically separated by size as they migrate through a polymer. Find the best DNA sequencing products, including DNA sequencing kits, genomic libraries and genetic identity kits in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Clinical GeneticsMolecular Genetics covers the analysis of hereditary genetic disease and chromosomal abnormalities. Genetics can be analysed using DNA, RNA, and protein microarrays, PCR, RT PCR and DNA sequencing. Genetic equipment includes genetic workstations, thermal cyclers, cooling blocks and electrophoresis products. Diagnostic kits are used for DNA / RNA extraction and purification.Whole Genome MappingDiagnostics