Cytogenetics is an area of genetic testing in which the chromosomes within cells are examined microscopically. Chromosomes are organized packages of DNA that carry our genetic information. Humans normally have 23 pairs of chromosomes.
Changes in chromosome number or structure may be associated with certain genetic disorders, developmental differences and reproductive problems. Cytogenetic analysis makes it possible to identify these changes.
What Do Cytogenetic Tests Evaluate?
Cytogenetic analyses examine:
1
Missing or additional chromosomes
2
Breaks, translocations and rearrangements
in detail.
Depending on the method used, chromosomal changes can be evaluated at different levels of resolution. Specialists interpret the findings in conjunction with the clinical information.
When AreCytogeneticTestsUsed?
Cytogenetic testing is used:
for genetic assessment during pregnancy (prenatal testing);
in infants, children and adults after birth;
in developmental delay and congenital anomalies;
in recurrent pregnancy loss;
in investigations of infertility;
in the assessment of hematological disorders and certain cancers.
These tests make an important contribution to diagnosing genetic diseases, identifying potential risks and developing appropriate follow-up and treatment plans.
