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The Cytogenomics and Molecular Pathology at Washington University School of Medicine is a full service state-of-the art facility equipped with modern imaging stations, laboratory information system, Chromosomal Microarray facility and automated metaphase scanning. We have a great team with dedicated, enthusiastic, very bright and experienced professionals.
The field of cytogenetics has a great impact on clinical management of patients and understanding the basic biology of these disorders. The Cytogenomics and Molecular Pathology (Clinical and Molecular Cytogenetics) at Washington University School of Medicine is certified by CLIA (Clinical Laboratory Improvement Act) and CAP (College of American Pathologists). We are major collaborators of the international, multicenter clinical trials such at COG (Childhood Oncology Group) and CALGB (Cancer and Leukemia GroupB) and DECIPHER (DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources).
Common indications for cytogenetic studies are prenatal diagnosis, postnatal constitutional investigations (multiple congenital malformations, dysmorphism, developmental delay, mental retardation, autism, autism spectrum disorders, growth retardation, disorders of sexual differentiation, infertility, multiple spontaneous abortions) and to analyze acquired chromosomal abnormalities, monitor therapy in patients with cancer.
Microarray based whole-genome analysis of copy number has revolutionized cytogenetics in research and clinical diagnostic laboratories. These analyses achieve a kilobase-level resolution, a MAJOR LEAP forward as compared to the megabase-level resolution for conventional chromosome analysis.
We offer a clinically validated an ULTRA-HIGH RESOLUTIOIN “chromosomal- microarray/molecular karyotype” which allows detection of deletions >200 kb or duplications >500 kb in size anywhere in the genome, and >50 kb in selected critical regions (compared to 5 Mb resolution of chromosome banding). Along with the clinical applications, this technology is leading to the discovery of new microdeletion syndromes and can be systematically used to develop a Gene Dosage Map for the human genome.
A variety of specimens are analyzed, including amniotic fluid, chorionic villus samples, tissue biopsies, products of conception, peripheral blood, bone marrow, lymph nodes and solid tumors.
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