CEBIOR as a place of research quite often help under-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 marker 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; 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 for Androgen Insensivity syndrome, polymorphism of some genes such as MTHFR, MSX1, PAI-1, TNF α, Cyp19, uncoupling protein polymorphism and other cytokine genes are being done on research based. JAK2 gene and BCR-ABL gene for hematologic malignancy is provided for services. Some gene mutation detection cannot been done in CEBIOR, therefore DNA will be extracted in CEBIOR and sent to other collaborator centers in overseas for further analysis.
Leaflets to provide information for patients or others have been printed and are 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.