The cytogenetic examination aims to analyze chromosomes and thus identify chromosome changes related to the clinical characteristics of the person. This test can be done at any age, including during pregnancy, to detect possible genetic changes in the baby.
Cytogenetics allows the doctor and patient to have an overview of the genome, helping the doctor make the diagnosis and direct treatment, if necessary. This test does not require any preparation and the sample does not take long, however the result may take between 3 and 10 days to be disseminated according to the laboratory.
- Human cytogenetics may be indicated for possible chromosome changes in both children and adults.
- This is because it evaluates the chromosome.
- Which is a structure composed of DNA and proteins that is distributed in cells in pairs.
- Or 23 pairs.
- From the cariogram.
- Which corresponds to the pattern of organization of chromosomes according to their characteristics.
- Which is released after examination.
- It is possible to identify changes in chromosomes.
- Such as:.
Thus, it may be requested to assist in the diagnosis of certain cancers, mainly leukemias, and genetic diseases characterized by structural changes or by the increase or decrease in the number of chromosomes, such as Down syndrome, Patau syndrome and Cri-du-Chat, known as meow syndrome or cat crying.
The test is usually done from a blood sample. In the case of the test in pregnant women whose purpose is to evaluate the chromosomes of the fetus, amniotic fluid or even small amounts of blood is extracted. After collecting the biological material and sending it to the lab, the cells will grow to multiply and then a cell division inhibitor will be added, making the chromosome in its most condensed form and better view. .
Depending on the purpose of the examination different molecular techniques may be applied to obtain information on the person’s karyotype, the most commonly used:
After application of the dye or marked probes, the chromosomes are organized according to the size, in pairs, the last pair corresponding to the sex of the person, and then compared to a normal kariogram, thus verifying possible changes.