Karyotyping:
Karyotyping is a laboratory technique used to culture dividing cells and prepare their chromosomes for analysis. A karyotype refers to the arranged visual profile of chromosomes, organized by size, shape, and banding pattern, using either manual or computer-assisted methods. Karyotype analysis involves growing viable cells in culture and arresting them at the metaphase stage of mitosis, when chromosomes are most condensed and easily visible.
A karyotype serves as the universal language of cytogenetics, translating observations from multiple cells of a specimen into a standardized string of alphanumeric symbols as per international nomenclature (e.g., ISCN). In a karyogram (the visual display), the sex chromosomes are typically arranged at the end, following autosomal pairs.
During the procedure, the nuclear membrane is lysed, and chromosomes are stained using specific banding techniques (such as G-banding). These banded chromosomes are then evaluated for both numerical abnormalities (e.g., aneuploidies like trisomy or monosomy) and structural abnormalities, including translocations, deletions, duplications, and inversions.
How Is the Karyotype Test Done?
The karyotype test can be performed on various types of tissue, including:
- Amniotic fluid (for prenatal testing)
- Blood (most common in adults)
- Bone marrow (often for cancer or blood disorders)
For infertile couples, the test is usually done via a blood draw, from both the male and female partner. The blood samples are then processed in a lab. A karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells.
Cells from the blood sample are placed in a particular container to encourage them to grow. Once the cells reach a specific stage of growth, the cells are stained and studied under a microscope.
Karyotype tests will see if any of these have happened with your baby. The most common things doctors look for with karyotype tests include: A baby has an extra, or third, chromosome 21. Karyotype tests can be used for more than finding birth defects.
What is the cost of Karyotyping Test?
| Karyotyping Test | Test Cost |
| Karyotyping Test for Single | Rs.4000 |
| Karyotyping Test for Couple | Rs.7600 |
| Fragile X Karyotyping | Rs.7500 |
| Karyotyping for Products of Conception | Rs.18500 |
How much time does it take for the outcome of the results?
It takes 8-10 working days for the outcome of the results. The results will be sent to your email.
How to book an appointment for Karyotyping Test?
You can either book the test online or can call us to book your test, and a free home sample collection will be provided to all our clients.
Why is the Karyotyping test performed?
This test is usually done to evaluate a couple with a history of miscarriages or to examine any child or baby who has unusual features or developmental delays that suggest a genetic abnormality.
The bone marrow or blood test can be done to identify the Philadelphia chromosome, which is found in about 85% of people with chronic myelogenous leukaemia (CML). The amniotic fluid test is done to check a developing fetus for chromosome abnormalities.
An unusual number of chromosomes, incorrectly arranged chromosomes, or malformed chromosomes can all be signs of a genetic condition. Genetic conditions vary greatly, but two examples are Down syndrome, and Turner syndrome Karyotyping can be used to detect a variety of genetic disorders.
Karyotype testing can be performed before birth to detect chromosomal abnormalities associated with congenital conditions, such as Klinefelter syndrome. In Klinefelter syndrome, a male is born with an extra X chromosome (47,XXY).
This method is most useful for examining chromosomal translocations, especially ones involving the Y chromosome.
What do the Test Results Mean?
A typical test result will show 46 chromosomes. Two of these 46 chromosomes are sex chromosomes, which determine the sex of the person being tested, and 44 of them are autosomes.
The autosomes are unrelated to determining the sex of the person being tested. Females have two X chromosomes, while males have one X chromosome and one Y chromosome.
Abnormalities that appear in a test sample could be the result of any number of genetic syndromes or conditions. Sometimes, an anomaly will occur in the lab sample that’s not reflected in your body. The karyotype test may be repeated to confirm that there’s an abnormality.
What abnormal results mean?
Abnormal results may be due to a genetic syndrome or condition, such as:
- Down syndrome
- Klinefelter syndrome
- Philadelphia chromosome
