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What is the Karyotype Test?
The karyotype test is a genetic test that analyzes the shape, size, and number of chromosomes. Chromosomes are found inside the nucleus of cells that contain genes, where the genes make up the deoxyribonucleic acid (DNA) which passes down from the parents to the offspring. DNA is unique to each individual and is responsible for one’s traits such as eye color and height.
Normally each cell has 23 pairs of chromosomes resulting in a total of 46 chromosomes. The offspring acquire one pair each from their parents.
During genetic diseases, there may be either a higher or lower number of chromosomes, abnormalities in shape or size of the chromosomes, and a karyotype test is often conducted to determine the genetic defects of a developing fetus. Some disorders caused by chromosomal defects include Edwards syndrome, Down syndrome, and Turner syndrome. Karyotype test is also known as genetic testing, chromosome studies, cytogenetic analysis, and chromosome testing.
Frequently Asked Questions:
What is the karyotype test used for?
The karyotype test is often used to detect genetic defects in unborn babies, mainly when the mother is 35 years or older, or parents have a family history of genetic disorders.
In adults, karyotyping is used during male and female infertility treatment, anaemia, multiple myeloma, leukaemia, and a family history of genetic disorders. Also conducted in young children showing symptoms of genetic disorders.
Understanding the test results of the karyotype test.
The karyotype test results should be ideally interpreted by the doctors, and patients should not try to self-diagnose. The abnormal karyotype result means the participant has a fewer or higher number of chromosomes, abnormalities in the shape or size of the chromosomes. In the case of those with cancer or blood disorders, an abnormal karyotype test indicates that the condition is due to a genetic disorder.
Why do I need a karyotype test?
Since karyotyping provides a genome-wide snapshot of the human chromosomes. It helps the doctors to identify genetic disorders in fetuses, newborns, adults, and genetic causes of infertility, diseases like anemia, leukemia, and myeloma.
What happens during the karyotype test?
During a karyotype blood test in adults, the healthcare provider collects blood samples from the vein in the hands into a test tube. The process lasts for about five minutes.
During prenatal karyotype testing with amniocentesis and chorionic villus sampling, amniotic fluid and cells from the placenta, respectively, are collected from the mother.
During bone marrow aspiration or biopsy, a sample of bone marrow is collected from the patient.
What is the cost of karyotype testing?
The cost of the karyotype test in India ranges between 2500-5000 rupees.
How long does the karyotype test take?
The karyotype blood test lasts for about five minutes. The bone marrow aspiration ranges from 30 to 60 minutes. The prenatal karyotype testing with amniocentesis is done between 15-20 weeks. The prenatal karyotype testing CVS is done at 11-14 weeks of pregnancy. The results of karyotype tests are available within one to two weeks.
Is karyotype a genetic test?
Yes, karyotype testing is genetic testing that allows doctors to take a closer look at the chromosomes and identify the genetic disorders. It is otherwise referred to as genetic, cytogenetic, and chromosome testing.
Why is the patient being referred for karyotyping?
The karyotype test is indicated if the person is a pregnant female who is 35 years or older, an unborn baby with a family history of a genetic disorder, young children showing signs of genetic disorders, and in treatment of infertility, cancer, or blood disorders.
Why is karyotyping important?
Karyotyping is important because it helps to identify genetic disorders in developing fetuses in the womb, young children, the genetic basis for infertility, and the risk of cancer and blood disorder causing changes in the chromosomes.
How accurate is a karyotype test?
Karyotyping is highly accurate testing with a laboratory success of 99.5% and a diagnostic accuracy of 99.8%. Overall, it is more than 99.9% accurate.
For more information, book an appointment at Yashoda Hospital.
References:
- https://medlineplus.gov/lab-tests/karyotype-genetic-test/#:~:text=A%20karyotype%20test%20looks%20at,as%20height%20and%20eye%20color.
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