LUCIA Cytogenetics

Cytogenetic testing

Cytogenetic testing, now often referred to as cytogenomic testing, is a method used in medical genetics to analyze chromosomes, their number, and structure.

Chromosomal disorders represent an important category of genetic diseases. Congenital numerical and structural abnormalities of chromosomes contribute significantly to many cases of reproductive disorders, congenital malformations, and intellectual disability. Acquired aberrations, on the other hand, play an important role in the pathogenesis of cancer.

Although the range of cytogenetic and molecular cytogenetic methods used to detect chromosomal aberrations is constantly expanding, with techniques such as MLPA, array-CGH, NGS, and optical genome mapping (OGM), classical cytogenetic analysis remains a cornerstone of laboratory practice. Karyotyping (examination of chromosomes from blood cells, amniotic fluid, bone marrow, etc., after cultivation and specific staining, most often G-banding) and FISH (a method that enables the detection of specific chromosomal regions or genes using fluorescently labeled probes) continue to be the basic methods employed in cytogenetic laboratories.

The result of cytogenetic testing is the determination of the patient’s karyotype and the identification of any chromosomal aberrations. These results are an important diagnostic tool for physicians, who use them as part of comprehensive patient care. The use of image analysis systems in cytogenetics is now widespread and is reflected in European laboratory guidelines and recommendations from professional societies.

The IVD medical device LUCIA Cytogenetics supports laboratory diagnosticians, cytogeneticists, and other healthcare professionals in their daily work with classical cytogenetic analysis (G-banding karyotyping), FISH analysis, and automatic metaphase chromosome detection.