Catalog number: A43585
The Ion Torrent CarrierSeq ECS kits provide all the reagents and materials necessary for a comprehensive, seamless, and flexible next-generation sequencing (NGS) workflow for expanded carrier screening (ECS). When used with an Ion GeneStudio S5 System, the kits enable a simple, end-to-end workflow for the detection of carrier-positive samples by research labs interested in maximizing the identification of carrier status using genomic DNA isolated from blood or saliva samples.The Ion AmpliSeq CarrierSeq ECS Panel included in the kits enables the detection of single nucleotide variants (SNVs), insertion/deletions (indels), and copy number variants (CNVs) associated with 418 inherited disorders in a single assay.
Benefits of the CarrierSeq ECS kits include:
Targeting of all coding regions and intron/exon boundaries of 420 genes implicated in 418 inherited disorders
Incorporation into a single NGS assay difficult-to-characterize genes due to homology as a result of paralogues (spinal muscular atrophy (SMN1 and SMN2)), pseudogenes (Gaucher disease (GBA and GBAP1)), 21-hydroxylase deficient congenital adrenal hyperplasia (CYP21A2 and CYP21A1P), and loci (alpha-thalassemia (HBA1 and HBA2))
For use with Carrier Reporter, intuitive data analysis software that quickly translates data into results with customizable analysis and reporting options
Flexible throughput options—kit formats available for 3, 4, 15, or 16 samples per chip or 6, 8, 30, or 32 samples per run
Comprehensive content and consolidated assays
The Ion AmpliSeq CarrierSeq ECS Panel provides comprehensive coverage of common and rare variants to help achieve higher per-disorder detection rate. The panel targets >14,000 amplicons that cover all coding regions of 420 target genes, including intron/exon boundaries, to genotype more than 28,000 SNVs and indels from the ClinVar archive of human variation. The panel also provides robust targeting for CNV analysis to maximize carrier status detection.
Genetic variants for a number of most prevalent yet serious disorders can be difficult to resolve by NGS assays, and so separate additional stand-alone tests are often required. The Ion AmpliSeq CarrierSeq ECS Panel consolidates such stand-alone assays into a single assay, including difficult-to-sequence genes, such as SMN1 for spinal muscular atrophy, GBA for Gaucher disease, CYP21A2 for 21-hydroxylase deficient congenital adrenal hyperplasia, and HBA1 and HBA2 for alpha thalassemia.
Streamlined implementation and workflow
The CarrierSeq ECS kits are an end-to-end solution that includes reagents for target amplification, library preparation, and sequencing with software for data analysis and reporting. The reagents are optimized to work together out of the box and ready to use with the Ion Chef and Ion GeneStudio S5 systems for template preparation and sequencing, respectively, and Carrier Reporter Software for reporting functionality with customizable options.
Straight-forward and powerful data analysis and reporting
Carrier Reporter Software is easy to use and designed specifically for carrier screening analysis and reporting. It incorporates the output of special analysis algorithms that address CNV and SNV/indel calling for technically challenging genes such as CYP21A2, GBA, HBA1/2, and SMN1.
Nuclear magnetic resonance (NMR) spectroscopy is a very powerful and precise analytical tool used to determine the structure of compounds, as well as to detect and quantify protein-ligand interactions that provides insights into molecular structures and affinity. The technology’s exceptional sensitivity and robustness enables it to detect even weak intermolecular interactions in solution phase, making it an invaluable tool in drug discovery and development. The analytical process does not require extensive optimizations, as the only prerequisite for NMR experiment to proceed (for structure determination or binding strength measurement) is the solubility of the target protein and/or the small molecule (ligand) in a selected solvent, making it an easily accessible technique.
Indeed, Bruker provides the world’s most accessible and easy-to-operate suite of NMR systems. With its user-focused technology, NMR confidence can be seamlessly and affordably integrated into laboratory workflows without compromising performance. Through Bruker’s partnership with Molave Trading Inc. and the University of San Agustin (USA), natural drug discovery reaches new heights in the country upon the installation of the Bruker Ascend 600 MHz Cryoprobe NMR Spectrometer in USA’s Magnetic Resonance Facility in Iloilo City. This milestone set a new standard as the first and only of its kind in the Philippines, and the 4th country in the ASEAN region.
In fact, the Bruker cryoprobe NMR spectrometer was extremely instrumental when a team of scientists from the University of San Agustin made a significant scientific breakthrough last February 21, 2023. They published the discovery of a new bacterial species from the Tubbataha Reefs Natural Park, a UNESCO World Heritage Site in Sulu Sea, which produces natural compounds with antibiotic and anticancer properties. NMR was one of the primary tools utilized to profile and confirm the structure of rare chlorine-containing compounds from this novel bacterial strain. The study was published in the journal Microbiology Spectrum from the American Society for Microbiology. Truly, a highlight of Filipino research excellence!
A sign of a healthy community is its simultaneous ability to preserve and invent its culture – to look back in history while developing new expressions for the present time. Much of our history is contained in artworks, documents, artifacts and other cultural heritages. As these objects are of utmost significance, preserving them has become a science-based discipline that entails meticulous cleaning, repairing, re-assembling as well as toning to blend with the original object. Further research and analysis are also done to identify material composition, effects of aging, and extent of damage caused by environmental pollution.
The Agilent Fourier Transform Infrared (FTIR) Spectrometer is used to analyze organic substances in valuable sculptures and artefacts without introducing significant destruction to the material. With innovative sampling technology, it can analyze objects that are too large, too valuable or too remote to measure with conventional spectrometers. Overcoming these challenges further preserves the integrity and authenticity of these historical objects; thus enriching the country’s heritage for future generations to come.
Everybody loves burgers. It is the harmonious relationship of two lightly toasted buns topped with roasted sesame seeds embracing a perfectly seared beef patty that’s rich brown on the outside and soft pink on the inside. Add to that a generous spread of mayonnaise, crisp lettuce and freshly sliced tomato. But the star of the show is the beef. It must be of top quality – with just the right amount of meat and fat to give it its juiciness, just the right amount of moisture and just the right amount of salt to give shape to its flavor.
The Foss FoodScan Meat Analyser helps your favorite burger joints produce the perfect beef patties for their burgers. Each patty is analyzed for its fat, moisture, protein, and salt content to make its shape, color, texture, and aroma consistent throughout wherever they may be served. So whether you’re eating a burger in Manila or in Davao, you can taste the same combination of textures and flavors that you gladly enjoy in your favorite burger.
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