Clinical cytogenetics deals with the analysis of chromosomes, their number and morphology, segregation in meiosis and mitosis, and the relationship between the findings of chromosomal aberrations (mutations) and phenotypic manifestations. Basic tests include karyotyping, examination of acquired chromosomal aberrations, FISH (fluorescence in-situ hybridization) and examination of microdeletion syndromes. These methods are mainly used in prenatal diagnostics, for testing infertile couples or donor sex cells.
Karyotyping is one of the basic examinations that are indicated on the basis of genetic consultation in medical genetics clinics. This test is recommended in case the presence of congenital chromosomal aberrations in the patient's karyotype is suspected.
Delivery time: 10-20 working days
The assessment of acquired chromosome aberrations (ACA) is a genotoxicological method suitable for biological monitoring of exposure to clastogenic substances and is one of the basic cytogenetic tests in persons exposed to harmful physical, chemical or biological influences (clastogens).
Delivery time: 20 working days
Fluorescence in situ hybridization (FISH) is a molecular cytogenetic method that allows the localization and identification of specific sections of the examined DNA. After the biological material is processed, a specifically fluorescently labelled DNA probe (usually centromeric) is added, which is visualized in a fluorescence microscope after binding to the relevant chromosome region.
Delivery time: 2-3 working days
Pregnant women with an increased risk of fetal chromosomal abnormalities (older age, positive biochemical screening or fetal ultrasound abnormalities) may undergo chorionic villus sampling (CVS) or amniotic fluid collection (AMC).
Delivery time: 2-3 working days
Analysis of microdeletions or microduplications in the whole genome is performed by array CGH (Comparative Genomic Hybridization) testing. It is a modern biochip technology that takes cytogenetic diagnostics to the molecular level.
Delivery time: 10-20 working days
The comprehensive examination enables rapid prenatal detection of the most common aneuploidies (chromosomes 13, 18, 21, X and Y) and rapid diagnosis of aneuploidies in chromosomes 15, 16 and 22.
Delivery time: 2-3 working days