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Scientific Poster
Development of a Hemolysis Index for Vanadis® cfDNA NIPT Sample Acceptance
Investigating samples that are below 1% hemolysis does not affect the accuracy of Vanadis® cfDNA NIPT results. Either spectrophotometry or a color comparison chart can be used to preferentially remove those samples that are highly hemolyzed from the workflow.
Scientific Poster
Importance of parental segregation studies and its role in variant classification
This poster highlights importance of parental segregation. Analysis helps to verify the phasing of the causative variants, to verify the de novo occurrences thereby aiding reclassification of the reported variants. Parental analysis post proband testing to better understand complex genetic variations.
Scientific Poster
Genetic Screening of a Reportedly Healthy Population for Familial Hypercholesterolemia, Hereditary Breast and Ovarian cancer syndrome, and Lynch syndrome
This poster highlights the benefits of healthy population screening for the conditions like Familial Hypercholesterolemia, Hereditary Breast and Ovarian cancer syndrome, and Lynch syndrome
Scientific Poster
Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: findings from the first real-world dataset
This poster concludes that ostensibly healthy babies are at-risk for pediatric onset mendelian condition. Majority of the GS findings are likely to influence healthcare management of babies at risk, and provide valuable information for other family members.
Scientific Poster
Evidence of Complex Inheritance Patterns in Limb-Girdle and other Muscular Dystrophies: Synergistic Heterozygosity and Multigenic Inheritance
This poster highlighted a high prevalence of patients with pathogenic variants in more than one MD gene suggesting possible multigenic contribution to disease presentation that needs consideration as a part of diagnostic modality. It indicated the importance of further genotype-phenotype correlation studies in other family members to completely understand the complex inheritance mechanism involved in the different muscular dystrophy subtypes
Scientific Poster
Limb-Girdle Muscular Dystrophy and other Myopathy Patients Diagnostic Yield in Large Cohort of more than 6000 patients
NGS panel study greatly helped to identify LGMD subtypes as well as other myopathies with clinical features overlapping with LGMD subtypes. Increased prevalence was observed for genetically confirmed Oculopharyngeal Muscular Dystrophy (OPMD), VCP related inclusion body myopathy, and other dominant overlapping MDs.
Scientific Poster
Efficiency of Genome Sequencing in Establishing Molecular Diagnosis in Undiagnosed Patients
Recommedation of GS as the comprehensive test to identify SNVs and CNVs in coding / non-coding regions to establish molecular diagnosis. Emphasis the importance of detailed clinical information to provide better analysis of genomic data.
Scientific Poster
Detection of Congenital Cytomegalovirus Infection on High-Risk Newborn Population
Next Generation Sequencing (NGS) based hearing loss panels are now commonly ordered but they do not detect the non-genetic cause of hearing loss such as CMV infection. This assay is now used for a high-risk population which includes newborns who fail the newborn hearing screen.
Scientific Poster
A UNITED FRONT ON TACKLING A PANDEMIC – THE TRUE VALUE OF INDUSTRY AND GOVERNMENT PARTNERSHIPS
This poster explains the experience of the SARS-CoV-2 global pandemic, the benefits of industry and government collaboration for the public.
Scientific Poster
Measurement of Nicotinamide Adenine Dinucleotide from Dried Blood Spot Cards
This poster shows the efficiency of chemically treated DBS cards providing acceptable stability allowing reasonable shipping conditions and potential for sample batching within the laboratory.
Scientific Poster
Tackling the COVID-19 Pandemic by Utilizing Next Generation Sequencing Technologies
Revvity's New Coronavirus Nucleic Acid Detection Kit has one of the highest sensitivity on the market. Due to the sensitivity of the kit and the laboratory’s unique sequencing method enables the state of California to closely monitor and track emerging VOCs within the state.
Scientific Poster
A Diverse Set of Case Presentation Highlight the Power of Whole Genome Sequencing – What Next?
A Diverse Set of Case Presentation Highlight the Power of Whole Genome Sequencing – What Next?
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