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Karyotype Test

General Information About the Test

Karyotype analysis (Chromosome Analysis) is the process of photographing and examining the numerical and structural arrangement of chromosomes in an individual's cells by magnifying them under a microscope. A healthy person should have 46 chromosomes (23 pairs). This test is requested by genetic specialists to identify genetic abnormalities such as Down Syndrome and Turner Syndrome, to find the cause of unexplained recurrent miscarriages, and to determine the genetic root of infertility problems.

Test Process and Preparation

The mapping of chromosomes and the sampling process.
What kind of sample is taken for the test?

In adults, the test is generally performed using a standard blood sample drawn from the arm (utilizing white blood cells). In pregnant women, amniocentesis fluid or chorionic villus sampling (CVS) biopsy material is used to determine the karyotype of the baby in the womb.

Can all genetic diseases be identified just by giving blood?

No. The karyotype test is a "large-scale" map; meaning it shows a deficiency/excess in the number of chromosomes or large deletions. It does not show "point mutations" within the genes themselves (such as SMA or cystic fibrosis); specific DNA sequencing tests are required for that.

How long does it take for the results to be ready?

Since chromosomes need to be cultured (multiplied) in special cell cultures in a laboratory setting until they reach a certain maturity, it can typically take 2 to 3 weeks for karyotype test results to be finalized.

The information on this page is for informational purposes only. The results of medical tests must be evaluated by specialist physicians.


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