The fourth and final white paper in our series reviews several concepts of enzyme assays for lysosomal storage disorders (LSDs). To wrap up the series, Baebies examines all the factors that determine enzyme activity and highlights how enzyme assays can be performed with shorter incubation times without incurring additional cost or compromising assay performance. This is especially significant in the case of newborn screening of Pompe disease, where timely intervention results in better outcomes for the patients.
This study demonstrates the feasibility of using lower sample volumes for testing coagulation markers of enzymatic functional assays on a microfluidic cartridge.
The recent additions of two lysosomal storage disorders (Pompe and MPS I) and a peroxisomal metabolic disorder (X-ALD) to the RUSP have led several labs to discuss adding these disorders to their screening panels. Our “Understanding Enzyme Assays for Lysosomal Storage Disorders” white paper series has examined key differences between enzymatic versus metabolic assays on digital microfluidics (FDA authorized) or tandem mass spectrometry (MS/MS) platforms. The series continues with a focus on the different screening methods for LSDs and X-ALD and how to optimize laboratory workflows when adding X-ALD.
Enzyme assays for lysosomal storage disorders (LSDs) are performed by using either digital microfluidics (FDA authorized) or tandem mass spectrometry (MS/MS) platforms. Part 1 of the “Understanding Enzyme Assays for Lysosomal Storage Disorders” series outlines the difference between natural and artificial substrates and how they are deployed on each platform. Although MS/MS platforms are often already installed in most labs for metabolic assays, key differences in assay protocols and workflows need to be evaluated to examine if it would be feasible to share the equipment. Part 2 of this series explains this further and examines the time it takes for each method workflow, including the steps and equipment necessary.
Baebies, a growth-stage company that delivers innovative products and services for newborn screening and pediatric testing, today announced that it has secured $10 million in Series B financing in an oversubscribed round anchored by BOE Technology Group Co., Ltd. BOE is a global leader in semiconductor display industry as well as an IoT company providing intelligent interface products and services for information interaction and human health. Baebies also received funding from family offices, with continued support from current investors and the North Carolina Biotechnology Center.
High throughput testing of multiple lysosomal storage disorders (LSDs) from dried blood spots can be performed using digital microfluidics (FDA authorized) or tandem mass spectrometry. Although both methods use “artificial” substrates to perform enzymatic reactions, digital microfluidics runs each reaction at its optimal pH. Download this free white paper to learn key differences between natural and artificial substrates for LSD assays and how they are deployed on each platform.
In our discussions with state public health laboratories, Baebies has observed confusion and ambiguity on the difference between Infantile Onset Pompe disease and Late Onset Pompe disease. We interviewed world-renowned expert on Pompe disease, Dr. Priya Kishnani, to disseminate insights into the clinical manifestations of Infantile Onset Pompe disease and Late Onset Pompe disease and to elucidate the significance of newborn screening for Pompe disease to public health laboratories who may be interested in adding Pompe disease to their screening panels. Dr. Kishnani is Division Chief of Medical Genetics and Director of the Y.T. and Alice Chen Pediatric Genetics and Genomics Research Center at Duke University Medical Center (DUMC). She also serves as Director of the Lysosomal Storage Disease Program, Biochemical Genetics Training Program and Metabolic Clinic at DUMC.
Baebies, a company focused on advancing newborn screening and pediatric testing, today announced that it has signed a bilateral distribution agreement with Trivitron’s Labsystems Diagnostics Oy to deliver a wider range of newborn screening solutions across several global markets. Baebies will distribute Labsystems’ newborn screening products in the U.S. after obtaining regulatory clearance, while Labsystems will distribute Baebies’ SEEKER® platform internationally; SEEKER is FDA authorized and CE marked. SEEKER is a high throughput laboratory solution for newborn screening and is currently configured to perform testing for certain lysosomal storage diseases.
Baebies SEEKER is an innovative FDA authorized newborn screening platform for lysosomal storage disorders. With SEEKER, time from punch to referral can be as little as one day! Earlier detection and referral can lead to earlier treatment and can dramatically improve the baby’s outcome.
Baebies SEEKER is an innovative FDA authorized newborn screening platform for lysosomal storage disorders. SEEKER is a product you can count on from day one, requiring no daily maintenance or upkeep!