Chromosome analysis 

Chromosome analysis is one of the classical and proven methods of human genetics. The examination of the chromosome set is used in various medical fields: For example, in the suspected diagnosis of Down syndrome or Turner syndrome, in the presence of abnormal prenatal ultrasound findings, or in the diagnosis of hematological neoplasms. The aim of a chromosome analysis is to examine a set of chromosomes (example of a female karyotype) for numerical or structural changes. Deviations from the normal number or structure of chromosomes can be causes of infertility, miscarriage or malformation syndromes.
Nowadays, many human genetics laboratories do not have a cytogenetic department. Reasons for this include the complex and, especially in prenatal diagnostics, time-consuming workflows and the subsequent collection and interpretation of findings. For this, personnel with a lot of professional experience is indispensable. With the help of our highly qualified staff, we continue to rely on our cytogenetics in order to be able to offer the complete repertoire of genetic diagnostics.

What is a chromosome analysis?

With the exception of germ cells (eggs and sperm), human cells normally contain 46 chromosomes; half of the chromosomes come from the mother and half from the father. In classic chromosome analysis, these are examined under a light microscope and assessed in terms of their number and structure. In the karyogram, the chromosomes are sorted in pairs. The exact constellation as well as numerical or structural deviations are described in a standardized way in the karyotype.

When is a chromosome analysis performed?

Chromosome analysis is one of the indispensable examination methods in the diagnosis of leukemia and lymphoma. The karyotype plays an important role for the initial diagnosis and classification of hematological diseases according to the WHO classification as well as for the follow-up of hematological neoplasms. Chromosomal analysis also plays an important role in the clarification of:

• abnormal prenatal findings
• repeated miscarriages
• unfulfilled desire to have a child
• developmental delays
• growth disorders
• physical malformations in children and adults