Down syndrome (DS) is a genetic condition that causes varying degrees of learning disabilities and other health problems. Nearly one baby in every 1000 born in the UK has this condition. For many parents, the birth of a baby with DS can be a frightening and confusing experience .
DS is among the most genetically complex conditions that are compatible with human survival post-term and is the most frequent survivable autosomal aneuploidy. The condition results from trisomy of all or part of human chromosome 21. Mouse models of DS, involving trisomy of human chromosome 21 or orthologous mouse genomic regions, provide valuable insights into the contribution of triplicated genes or groups of genes to the various clinical manifestations in DS. This research is challenging due to the presence of over 200 protein-coding genes on chromosome 21, which can have direct and indirect effects on cellular, tissue, organ, and system homeostasis .
At Genoverse, we specialize in the diagnosis and research of Down Syndrome, utilizing advanced multiomics and bioinformatics approaches to provide accurate and reliable results for patients and healthcare providers. Our team of expert geneticists and scientists employs cutting-edge technology to detect chromosomal abnormalities associated with Down Syndrome, ensuring that every analysis is conducted to the highest standards.
