Karyotype Test from Peripheral Blood

The karyotype test from peripheral blood allows for a detailed examination of an individual’s chromosomes. This test is used to detect chromosomal abnormalities that may cause various genetic disorders and conditions. At the IntroLab in Belgrade, we provide precise and reliable karyotyping services, using modern techniques and equipment for chromosome analysis.

What is a karyotype?

A karyotype represents the complete set of chromosomes of a person, arranged by size, shape, and number. This test allows for the identification of chromosomal abnormalities that may be the cause of various genetic disorders.

When is a karyotype test from peripheral blood conducted?

A karyotype test from peripheral blood is typically conducted when there is a suspicion of genetic disorders, such as Down syndrome, Turner syndrome, Klinefelter syndrome, and other chromosomal abnormalities. It is also recommended for couples with a history of infertility or recurrent miscarriages, as well as during prenatal examinations when risk factors are present.

Sample collection

Blood sample collection for the karyotype test is performed in laboratory conditions. A sample of peripheral blood is taken from the patient. The blood sample is placed in a nutrient medium with a mitogen, which stimulates T lymphocytes to divide. After 72 hours of cultivation at a temperature of 37°C, cells in the metaphase stage of the cell cycle are stopped using colchicine. This allows for the preparation of chromosomes for further analysis. Microscopic preparations contain cells in mitosis, enabling detailed cytogenetic analysis and identification of chromosomal abnormalities.

Interpretation of results

Karyotype test results provide information on the number, shape, and structure of chromosomes. A normal karyotype contains 46 chromosomes, arranged in 23 pairs. Abnormalities, such as extra or missing chromosomes, may indicate the presence of genetic disorders. Interpretation of the results is performed by a geneticist who will explain the findings and recommend further steps if necessary.