CEBIOR as a place of research quite often helps under graduate and post graduate students including clinicians in establishing the proper diagnosis especially for the genetic testing. Genetic counseling will be given in pre- and post-laboratory examination for all patients. Laboratory examination mainly is done for cytogenetic and DNA analysis. Molecular immunology and other immunology markers such as cytokine using Elisa mostly have been done for research. Varieties of Cytogenetic assessment (chromosome analysis) are available in our laboratory such as from blood for most genetic disease, from bone marrow for hematological malignancy diagnosis, and from villi chorialis and amniotic fluid for prenatal diagnosis. G-banding is a routine technique for cytogenetic analysis. However, C and silver banding if it is necessary will be done for identifying Y chromosome or other small group chromosomes. DNA analysis for FMR-1 gene to diagnose Fragile X mental retardation syndrome, X and Y detection for sexing, SRY and AZF gene for infertility and genital defect are routinely carried out at CEBIOR. Some mutations on Cyp21 gene for the diagnosis of Congenital Adrenal Hyperplasia, AR gene mutation, polymorphism of some genes such as PAI-1, TNF α, Cyp19, uncoupling protein polymorphism, and other cytokine genes are being done on the research basis. In hematologic malignancy, Jak2 gene, BCR-ABL gene and Philadelphia chromosome from bone marrow culture also have been done for research and services. Some gene mutation detection can not be done in CEBIOR, therefore DNA will be extracted in CEBIOR and sent to Department of Human Genetic, RUNMC Nijmegen for further analysis.
Leaflets to provide information for patients or others have been printed and freely provided in CEBIOR. They comprise leaflets about chromosome analysis, preparation of chromosome assessment, Down syndrome, Fragile X Syndrome, Turner syndrome, DSD, and genetic counseling.