Karyotyping is a laboratory procedure that allows doctors to examine an individuals set of chromosomes. It is a test that examines chromosomes in a sample of cells to identify genetic problems as the cause of a disorder or disease. Karyotyping provides a genome-wide snapshot of an individuals chromosomes by pairing and ordering all the chromosomes of an organism. The test can help identify unusual changes in chromosomes and can be used to look for abnormalities in chromosome number or structure.
The karyotyping procedure involves taking a sample of cells from the individual and allowing them to grow in the laboratory. The laboratory specialist then uses a microscope to examine the size, shape, and number of chromosomes in the cell sample. The stained sample is photographed to show the arrangement of the chromosomes, which is called a karyotype.
Karyotyping can be used to detect a variety of genetic disorders, such as Down syndrome, Klinefelter syndrome, Philadelphia chromosome, Trisomy 18, and Turner syndrome. It can also be used to diagnose genetic abnormalities that indicate serious birth defects, such as Klinefelter syndrome.
The preparation required for karyotyping depends on the method the doctor will use to take a sample of the individuals blood cells for testing. Samples can be taken in various ways, including a blood draw.
In summary, karyotyping is a laboratory procedure that examines chromosomes in a sample of cells to identify genetic problems as the cause of a disorder or disease. It provides a genome-wide snapshot of an individuals chromosomes and can be used to detect a variety of genetic disorders.