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Scientific Poster
Low volume, highly sensitive immunoassays for detecting cytokines in animal fluids
Low volume, highly sensitive immunoassays for detecting cytokines in animal fluids
Scientific Poster
Fast Forward – is Multiomics a resurgence How Does Multiomics Help Variant Reclassification?
Biochemical results alone are insufficient for variant reclassification, Additional information from multiple measurements through multiomics, large reference and patient databases, integrated analysis methods, and computational infrastructure is required to further interpret the VOUS variants to ensure improving early diagnosis and personalized treatment. Advanced Omics technologies will help discover of additional biomarkers and further elucidate the phenotype-genotype relationship along with tracking response to new therapies.
Scientific Poster
Comprehensive genetic testing gives a high diagnostic yield in the Indian sub-continent compared to the western population
The diagnostic yield achieved through Focused exome sequencing in Indian patients is high. Revvity Omics' Focused exome Sequencing's proprietary bioinformatics pipelines helps in enhanced detection of sequencing variants (SNVs), copy number variants (CNVs) and mitochondrial DNA (mtDNA) in a single assay making it the most comprehensive testing options available in Indian markets.
Scientific Poster
Genomic and Biochemical Profile of Pseudodeficiency in Lysosomal Storage Disorders
This study is shows a correlation between genomic variants, enzyme activities and biomarkers can help to more accurately rule out false-positive cases caused by pseudodeficiency, especially in the newborn screening setting.
Scientific Poster
Fast Forward –is Multiomics a resurgence of old?
This poster shed lights on the correlation between biochemical results and molecular findings, as well as genotype-phenotype relationship in Pompe, Gaucher and Fabry diseases. Hightlights usage multiomics in improving diagnostic performances and personalized treatment, but it’s required datasets from multiple measurements, large reference databases for different genes and diseases, integrated analysis methods and strong computational infrastructure.
Scientific Poster
Genetic testing for APOB, LDLR, PCSK9, and LDLRAP1 suggest that FH testing may be underutilized
This eposter highlights the prevalence of Familial hypercholesterolemia, to inform of disease risk and response to treatment, leading to positive health outcomes for patients and their families.
Scientific Poster
Multiplexed Measurement of Enzyme Activities Associated with Seven Lysosomal Storage Disorders from a Dried Blood Spot via LC-MS/MS
An assay has been successfully developed that allows for the direct measurement of the activity of seven lysosomal enzymes from DBS for patients age 0-20 y. This assay is used as a primary screening tool.
Scientific Poster
Shining a light on diagnosis of rare genetic disorders: the lantern project
The study helps to identify a larhger patient pool with potential to attract more interest in these rare disorders, increaing the developmental landscape of alternative therapies.
Scientific Poster
Utilizing Advanced Genomic Technologies to Identify Dual Diagnoses
The ability of whole genome sequencing and the whole exome sequencing helps in Nuclear and mito genome detection, SNV and CNV detection and multiple diagnoses
Scientific Poster
Extending and Adapting the Functions of Genetic Laboratories During the COVID-19 Pandemic- Challenges and Successes
Given the current global awareness of respiratory virus activity and spread, there is a growing demand for new and expanded testing. This poster explains the need to explore the new tests to pivot between COVID test and Rare disorders with innvoation
Scientific Poster
Brightfield and Fluorescent Image Analysis for Screening Applications using the Celigo Adherent Cell Cytometer
Brightfield and Fluorescent Image Analysis for Screening Applications using the Celigo Adherent Cell Cytometer
Scientific Poster
Cell-mediated cytotoxicity assay by high-throughput direct cell counting in microplates using fluorescence-based image cytometry
Cell-Mediated Cytotoxicity Assay by High-Throughput Direct Cell Counting in Microplates using Fluorescence-Based Image Cytometry
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