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Brochure
Cellometer Ascend automated cell counter brochure
Brochure describing the Cellometer Ascend automated cell counter.
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
Whitepaper
Guidance for ensuring your EnVision multimode plate reader complies with 21 CFR Part 11
Download this document and learn how the tools within Enhanced Security software for the EnVision plate reader can help support 21 CFR Part 11 compliance with access levels, data security, and a comprehensive audit trail of user actions
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.
Other
Sample Collection Instructions_Lantern Project
Instructions for sample collection and list of accepted sample types for the Lantern Project
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
Universal Newborn Screening of Congenital Cytomegalovirus using Dried Blood Spots and qPCR
The NeoMDx™ cCMV kit a steppingstone to universal screening of cCMV though access to relevant/known clinical samples for further vet robustness and finalize Ct cutoffs.
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