Head: Drs. Sonja M. van Dijk
Contact: (597) 441007 / 441009 ext. 658
The Department of Cell Biology of the Medical Scientific Institute mainly focuses on service activities, particularly diagnostics for hospitals, general practitioners, specialists and routine laboratories. The department has dedicated itself to creating new diagnostics, which are transferred to the routine laboratories after a period of validation, except for diagnostics that are highly specialized due to the technology or expertise, or when setting up the test in a routine is not profitable because of a low demand. The focus of research of the department is chromosome analysis. The diagnostic tests that are offered in this context are:
Prenatal chromosome analysis (amniotic fluid)
In the search for chromosome abnormalities prior to the birth, the karyotype (arrangement of the chromosomes of a cell according to a standardized method) is determined in cells of the unborn child that are found in the amniotic fluid. This examination is indicated in all cases with an increased risk of abnormalities, such as maternal age over 35 years or abnormal early ultrasound.
Postnatal chromosome test (blood)
With this test, in which special color techniques are used, each chromosome exhibits a characteristic band pattern, enabling the determination of a karyotype. If perceptible with a light microscope, the karyotype can show whether there is a numerical abnormality or structural abnormalities. To search for chromosome abnormalities shortly after birth or at a later stage of development, the karyotype is determined in lymphocytes (white blood cells) which are found in peripheral blood.
Chromosome Study of hematological disorders/leukemia (bone marrow)
For the chromosome analysis of certain leukemias the bone marrow is investigated to locate very specific chromosomal abnormalities. Confirming the chromosomal abnormality is important for the therapy and for the monitoring thereof.
The FISH technique can be used for finding chromosomal abnormalities which are difficult or impossible to recognize with karyotyping. This technique can also be used if there is insufficient time to bring the cells in culture. In this technique, chromosomes are provided with fluorescent labels and examined with a fluorescence microscope.
In addition to the chromosome analysis, also diagnostic tests are carried out that can detect the presence of auto-antibodies. These tests, which are used in the diagnosis of auto-immune diseases such as Lupus Erythematosus (LE), the Anti-Nuclear Factor (ANF) test, and a direct immunofluorescence test on skin and kidney biopsies.