![]() Through its Advanced Diagnostics offerings, Quest specializes in combining state-of-the-art technologies, such as next generation sequencing, with higher-order interpretative expertise and digital customer enablement. Blueprint Genetics is expected to continue to operate largely independently from its base laboratory in Helsinki, Finland, and a presence in other countries. The acquisition provides a platform for Blueprint Genetics to leverage Quest's capabilities in next generation sequencing and national infrastructure serving half the health systems and physicians in the United States. ![]() Gene variant interpretation involves identifying associations between gene variants and disease or treatment response.īlueprint Genetics has increased its focus and presence in the United States through a recently established hub facility in Seattle, Washington. The company provides 3,900 targeted single gene and over 200 panel tests spanning 14 medical specialties. ![]() The company's growth is based largely on proprietary guideline-supported methods of gene variant interpretation of data generated from next generation sequencing, backed by high-touch consultative service. ![]() "Blueprint Genetics has developed a proven model for delivering highly specialized genetic insights that we believe we can scale to serve new patient populations with unmet clinical needs. The addition of Blueprint Genetics strengthens and extends the Quest value proposition in genetics, delivering on our Accelerate growth strategy and vision of a healthier world."įounded in 2012, Blueprint Genetics grew rapidly, and now serves customers in over 70 countries. "The great challenge with genetic testing is generating quality, actionable and broadly accessible insights from vast quantities of sequenced genetic data," said Steve Rusckowski, Chairman, President and CEO, Quest Diagnostics. Financial terms of the transaction were not disclosed. Together, Quest and Blueprint Genetics will broaden access to actionable insights in genetic and rare diseases, improving patient care and pharmaceutical drug research and development. Blueprint Genetics is a leading specialty genetic testing company with deep expertise in gene variant interpretation based on next generation sequencing (NGS) and proprietary bioinformatics. 22, 2020 /PRNewswire/ - Quest Diagnostics (NYSE: DGX), the world's leading provider of diagnostic information services, today announced that it has acquired Blueprint Genetics in an all-cash equity transaction. The Comprehesive Monogenic Diabetes Panel covers MODY, which is described in detail at MODY Panel description.SECAUCUS, N.J. In INS-related cases, patients present with marked hyperglycemia or diabetic ketoacidosis on average at nine weeks, but some at a much later age. GCK-related PNDM patients have permanent insulin-dependent diabetes from the first day of life. Approximately 25% of patients with mutations in the KCNJ11 gene have related neurological findings, including developmental delay and epilepsy (DEND syndrome) or a milder form of DEND without seizures and with less severe developmental delay (intermediate DEND). In KCNJ11 and ABCC8-related cases, patients usually present before three months of age with symptomatic hyperglycemia, and often ketoacidosis. The clinical manifestations differ depending on the underlying genetic defect. Neonatal diabetes is most commonly caused by mutations in the KCNJ11 (34%), ABCC8(24%), INS (13%) and GCK (4%) genes. The condition has been reported in all ethnic groups and affects male and female infants equally. About 50% of NDM cases are permanent (PNDM) and 50% transient (TNDM). The incidence of NDM is estimated to be 1:95,000 to 1:150,000 live births. Many patients display some degree of developmental coordination disorder. ![]() The transient form of neonatal diabetes mellitus (TNDM) typically resolves by 18 months of age. Initial clinical manifestations include hyperglycemia, glycosuria, intrauterine growth retardation, osmotic polyuria, severe dehydration, and failure to gain weight. Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes characterized by persistent hyperglycemia within the first 12 months of life in general (median age of onset of nine weeks), requiring continuous insulin treatment. The main phenotypes suggestive of an underlying monogenic cause include neonatal diabetes mellitus (NDM), maturity-onset diabetes of the young (MODY) and other very rare diabetes-associated syndromes. Monogenic diabetes consists of a heterogenous group of diabetes types that are caused by mutations in single genes, estimated to represent as much as 1-2% of all cases of diabetes mellitus (DM). ![]()
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