Karyotyping testDr.Abhistita MudunuriLast Updated on 21st January 2022
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What is the Karyotyping test used for?
The Karyotyping test is used for various purposes, among which a few are:
- Determining whether an adult’s chromosomes have an alteration that can be handed down to a child.
- Determining whether a chromosomal abnormality prevents a woman from becoming pregnant or leads to miscarriages.
- Determining whether or not the fetus has a chromosomal defect and whether chromosomal disorders resulted in a stillborn fetus.
- Finding out why a baby has birth problems or disabilities.
- Determining the best treatment for certain types of cancer.
- Checking the presence of the Y chromosome, in case the gender of the baby is not known.
What is included in the Karyotyping test?
A genetic disorder is caused by an irregular division or positioning of the chromosomes during cell division. These can be caused due to errors in multiplication or incorrect formation of chromosomes. The best example of such genetic abnormality is Down’s syndrome and Turner’s syndrome, where you can detect the anomaly distinctly.
Karyotyping is a technique for detecting a wide variety of genetic disorders. For example, an ovarian failure caused due to any chromosomal defects can be detected by a karyotyping test. You can also use the test to see if you have the Philadelphia chromosome or not. This chromosome’s existence may suggest the presence of chronic myelogenous leukemia (CML). Before a baby is born, karyotype testing can be performed to detect genetic defects that could indicate major birth defects, such as Klinefelter syndrome, where a boy is born with an extra X chromosome.
Procedure for Karyotyping test
Taking a sample of your cells is the initial step in karyotyping. The cells in the sample can come from a variety of tissues. The sample may include:
- Amniotic fluid
- Bone marrow
Depending on the body part being tested, sampling can be done in various ways. If amniotic fluid needs to be analyzed, the doctor will utilize amniocentesis to collect the sample.
Following the collection of the sample, it is placed in a laboratory dish where the cells can develop. The cells from the sample will be stained by a lab technician. Then, the pathologist will be able to examine the chromosomes under a microscope.
Under a microscope, these colored cells are evaluated for possible abnormalities:
- chromosomes that aren’t supposed to be there
- chromosomes that are missing
- chromosomes that are missing in parts
- chromosomes with additional segments
- parts of a chromosome that have separated and attached to another
How to prepare for a Karyotyping test?
You are not required to do anything before taking this test. The results of the karyotyping test can have a big impact on your life. So, you should consult a geneticist or genetic counselor. Such counselors are qualified to explain what your karyotype test findings indicate, such as your risk of having a child with a genetic disease like Down’s syndrome. A genetic counselor can assist you in making informed choices. Therefore, going for genetic counseling is a good idea before choosing to carry out a karyotyping test.
Things to consider after the Karyotyping test is complete
The size, shape, and number of chromosomes in your body can be examined by a Karyotyping test. The sections of your cells that hold your genes are called chromosomes. Genes are pieces of DNA that your mother and father have passed down to you. They contain data that determines your characteristics, such as height, eye color, and many more.
It may be beneficial to consult a genetic counselor if you are considering being tested or if you have received aberrant results on your karyotyping test. A genetic counselor analyses your results from genetic testing and tells you about any hidden or exposed threat. He or she can explain your results, refer you to resources, and assist you in making educated decisions regarding yourself or your child’s health.
What types of conditions can a Karyotyping test detect?
Karyotyping tests examine your baby’s chromosomes. It is a definitive test to detect whether your child has a hereditary condition or not.
How much does the Karyotyping test cost?*
Karyotyping tests can cost differently in different cities of the country. The price range does not differ a lot throughout the country. The average cost is around Rs. 2975.
*Disclaimer: The value varies based on location, time, and your preferred lab partner.
How long does it take to get the results for the Karyotyping test?
You can expect to get the results for the Karyotyping test within 1 to 2 weeks after the sample is collected. However, in certain cases, depending on the location, medical advice, and preferred lab partner, it may take longer.
What do abnormal Karyotyping test results indicate?
In a normal human body, there are 46 chromosomes. Out of these 46 chromosomes, two are sex chromosomes, which define the person’s sex, and 44 are autosomes. The autosomes have nothing to do with determining a person’s gender. Males are born with one X chromosome and one Y chromosome, while females are born with two X chromosomes.
A test sample’s abnormalities could be the outcome of a variety of genetic disorders or illnesses. Occasionally, an irregularity in the lab sample will not be reflected in your body. Karyotyping tests can be repeated to confirm any anomaly in the previous test.
Disclaimer: Please consult with your doctor for interpreting the test reports.
Is Karyotyping a definitive test?
Karyotyping is a test that determines the number, size, and shape of chromosomes in a sample of body cells. The bodily function, growth, and development depend on the chromosomes as they carry important information with them. Therefore, missing a chromosome or having an extra pair of chromosomes affects the normal functioning of a human. A blood sample from a vein is generally used for karyotyping tests. You will not feel anything at all, or you might feel a short sting or pressure from the needle. The test results will be interpreted by your treating doctor who will decide if the results are accurate.
How to read the Karyotyping test report?
The presence of a total of 46 chromosomes, composing 22 matching pairs and 1 pair of sex chromosomes (XX for a female and XY for a male).
In a normal human, the size, shape, and structure of chromosomes are normal.
The number of chromosomes is either more or less than 46 in an abnormal Karyotyping test result.
The chromosomes also have irregular shapes and sizes in an abnormal karyotype.
Incorrectly paired chromosomes or a broken chromosome can result in an abnormal karyotype.
Why to book a Karyotyping test?
Karyotyping tests can be used for a variety of purposes other than detecting birth abnormalities. Other abnormalities detected by the karyotyping test are as follows:
- If you’re having trouble getting pregnant or have had numerous miscarriages, your doctor may want to screen for chromosome problems in you or your spouse.
- You can find out whether you have a problem that your child may inherit.
- You can also check for a genetic defect in a stillborn baby.
- You can check for genetic anomalies in your unborn child.
- The test can figure out what’s affecting your baby or child’s health or causing developmental issues.
- In rare circumstances where it isn’t evident, chromosome tests can determine whether a newborn is a boy or a girl.
- Chromosome alterations can be caused by certain types of cancer. Karyotype testing can assist you in receiving the most appropriate treatment.
Karyotyping test at home – how does it work?
The Karyotyping test is just like any other blood test. When you book your tests through the MFine app, a lab technician visits your house. The lab technician first cleans the arm and then inserts a syringe into a vein. The required amount of blood is then taken into a vial. The lab technician then removes the needle and places cotton wool or a bandage over the prick.
If the Karyotyping test sample is to be collected via amniocentesis it will be done under ultrasound guidance by a qualified doctor in a clinic.
Are there any risks involved with the Karyotyping test?
The risk factors involved in Karyotyping blood tests include:
- Bruises on arms due to the prick of the needle
- Excess bleeding during the blood test or after
- Sore arm due to the injection
Risks of a biopsy and bone marrow extraction include:
- Soreness at the injection site.
- Tingling of legs
Risks of amniocentesis or CVS include:
- Infection in the uterus.
- Virus transmission.
What can affect the results of the Karyotyping test?
Factors that can affect the accuracy of your test or the results include:
- Some cancer treatments have the potential to alter chromosomes.
- The location where the cells are gathered. Whether the cells were taken from the amniotic fluid, the fetus, or the placenta can affect the findings of a Karyotyping test.
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Frequently asked questions | FAQs
Is the lab technician coming for Karyotyping sample collection vaccinated?
Yes. Our lab technicians are fully vaccinated. Further, they also ensure safety throughout by wearing a mask, gloves, and frequently sanitizing themselves during the sample collection.
Does MFine provide the interpretation for the results along with the reports?
Yes, MFine provides the interpretation for the result along with the reports. You can also avail a free medical consultation with a doctor to understand your reports accurately. The doctor will also advise and prescribe medicines, if required, based on the results.
How can I download my Karyotyping test report?
- Login to MFine
- Go to your profile
- Click on Attachment and Reports
- Click on Lab Report
- Download the report
Are there any discount offers running on Karyotyping test?
Usually, you can avail of up to a 50% discount on Karyotyping test through MFine. However, the discount and test price may vary based on lab partner and location.
Who do I go to for a Karyotyping test?
Depending on the karyotype test you need, different kinds of healthcare providers may collect blood or fluid samples. In a lab, pathologists or geneticists with chromosome analysis training analyze the blood or fluid.
What are the different types of Karyotyping tests?
There are various kinds of Karyotyping tests:
- The most frequent method of chromosomal testing in adults, babies, and children is a blood test. In persons with certain malignancies or blood diseases, bone aspiration and biopsy are used to analyze a sample of bone marrow.
- Amniocentesis is a process that includes extracting a sample of the developing embryo’s amniotic fluid, which is the protective fluid that surrounds a growing child in the womb.
- A process called chorionic villus sampling (CVS) involves collecting a sample of cells from the placent During pregnancy, this is an organ that develops in the womb to provide oxygen and nutrients to the fetus.
What happens during a Karyotyping blood test?
It only takes a few minutes to draw blood for a routine karyotype test. You can have the test done at your doctor’s office, a hospital, or a lab. Blood samples are normally taken by a healthcare worker or a lab technician.
Here’s what to anticipate:
- A tiny needle is used by the lab worker to draw blood from a vein in your arm.
- You may experience a slight pricking sensation as well as some discomfort.
- They draw blood into a collection tube and then remove the needle.
- They wrap your arm in a tiny bandage.
Can a genetic disorder be cured?
Many genetic illnesses are caused by gene alterations that can be found in almost every cell in the body. As a result, these ailments frequently impact many physiological systems, and the majority of them are incurable. However, there may be ways to treat or manage some of the signs and symptoms that come with it.
What is genetic counseling?
Genetic counseling is a professional session with a genetic counselor to learn more about how hereditary disorders can affect them and their families. Changes in genes are the cause of genetic disorders, and therefore, tracing those genetic anomalies can help parents track hereditary diseases as well.
What are the limitations of the Karyotyping test?
The limited sensitivity of karyotype analysis for detecting abnormalities, which requires a minimum of 5–10 percent of cells analyzed to contain the anomaly for good identification, is one of its disadvantages. Any disparities in the above-mentioned requirements may result in the inefficient analysis of sensitivity.
Disclaimer: The content is uniquely informative and is meant for educational use. Kindly use the content only in consultation with an appropriate certified or registered healthcare provider.