Karyotyping: All About Chromosome Detection

Karyotype test is one of the most important and frequent diagnostic tests in genetic science, which plays a vital role in the diagnosis of chromosomal abnormalities. This test allows checking the structure and number of a person's chromosomes and helps doctors diagnose genetic diseases and infertility. In this article, we will explore everything about karyotype testing, its process, its uses and its importance. What is a karyotype test? Karyotyping, or imaging of chromosomes, is a process in which individual chromosomes in mitosis are collected and killed to analyze their structure and number. The results of this study are an image of chromosomes in metallic state, which is called a karyotype image. This image shows the number, shape and size of chromosomes and can detect abnormalities such as Down syndrome, trisomy 13 and 18, or structural abnormalities such as breaks in chromosomes. When is the karyotype test done? A karyotype test is requested in a variety of situations, including: - **Infertility or repeated miscarriage**: to check for chromosomal abnormalities in people with a history of repeated miscarriages or infertility. - **Children's growth and development problems**: If the child has developmental disorders, congenital defects, or special symptoms. - **Suspicious of genetic abnormalities in births**: such as Turner syndrome, trisomy and other abnormalities. - **Fertility problems in couples**: If there is a need to check the chromosomal structure of the couple before planning pregnancy. What is the process of doing a karyotype test? 1. **Sampling**: Sampling is often done from blood, space fluids, or in certain cases, from skin or other tissues. 2. **Cell culture**: Cells are cultured in the laboratory to enter the stages of mitosis. 3. **Stopping at the metaphase stage**: At this stage, the chromosomes become completely visible. 4. **Smoothing and coloring**: Chromosomes are colored so that their structure can be seen better. 5. **Image capture and analysis**: A picture of the chromosomes is taken and their structure is analyzed. Importance and applications of karyotype test - **identification of chromosomal abnormalities**: with the help of this test, types of trisomy, structural defects, and chromosomal deficiencies are diagnosed. - **Genetic counseling**: The results may be important guidance for couples in fertility or family planning. - **Diagnosis of congenital abnormalities and repeated abortions**: help to determine the problematic factors and adopt appropriate treatment strategies. - **Treatment planning and medical follow-ups**: based on the results, specific treatments or supportive measures are suggested. Limitations of karyotype testing While karyotype testing is an effective method, it also has limitations; including: - The need for sampling at a specific stage of the cell cycle (metaphase) - Inability to detect abnormalities below 5 million bases or unstable - Long process (about 1-2 weeks) Summary Karyotype testing is an important and vital tool in genetic sciences that helps identify chromosomal abnormalities and plays an effective role in diagnosing genetic diseases and infertility. By analyzing the structure and number of chromosomes in the body, this test provides valuable information to doctors and genetic counselors and paves the way for treatment and medical care. If symptoms associated with genetic abnormalities are observed in your family or yourself, be sure to consult a specialist and include karyotype testing in your diagnostic plans. > Kausar Pathobiology Specialized Laboratory, proud to obtain ISO 15189, ISO 10002 and ISO 9001 of the European Union, under the supervision of Dr. Ali Ayatollahi, an anatomical and clinical pathology specialist, covers more than a thousand cases of various tests in the fields of pathology, genetics and clinical. (Contract party of basic insurances and most supplementary insurances) Also, genetic counseling is provided free of charge in this center by experts.* > > *Address: Mashhad - Vakilabad - Kausar Blvd. - between 2 and 4 Kausar - Farabi Doctors Building - negative one floor. Contact numbers: 051-38840404 and 051-38820202 and 09028840404* > > **Kowsar specialized laboratory, having the equipment and experienced personnel, is able to perform sampling services at home in Mashhad.**