Karyotyping Test
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How to Book A Karyotyping Test in Pune?
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:
- Placenta
- Blood
- 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?
Normal:
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.
Abnormal:
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.
- Bleeding.
- Tingling of legs
- Bruising.
- Infection.
Risks of amniocentesis or CVS include:
- Bleeding.
- Cramps
- Infection in the uterus.
- Miscarriage
- 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.
Why Book the Karyotyping Test?
- The chromosomes in your cells are examined closely through the karyotyping test. It is used to detect different kinds of genetic disorders in your body. Doctors prescribe this test if you have already experienced any genetic or pregnancy-related issues. These defects may either be pregnancy loss, a recurrent miscarriage, or the presence of certain genetic diseases. Moreover, situations in which your doctor may recommend this test include
- -->Infants or children having medical conditions that suggest chromosomal abnormalities
- -->Prenatal testing
- -->Infertility
- -->Leukemia Still-birth Adults with Klinefelter's or Turner's syndrome.
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What does the Karyotyping Test measure?
- Genetic information is passed on from one cell to another during cell division. With no cells dividing, the chromosomes remain unorganized. However, they line up in pairs during cell division.
- A karyotyping test examines the chromosomes during cell division. The chromosome pairs are arranged by their size and appearance. This helps your healthcare provider determine if any chromosomes are missing or damaged.
- The chromosomes' karyotype will help the doctor detect any genetic disorder present in your body.
What Preparation is Needed for the Karyotyping Test?
- No special preparation is required for a karyotyping test. But, if you have had a blood transfusion recently, you must inform your healthcare provider about it.
- Usually, you don't require fasting before the test. However, your healthcare provider will inform you about the prerequisites of the test before its commencement.
- You may need to sign a consent form, as is required for most genetic tests.
- Furthermore, inform your physician about your medical history or medications for an accurate diagnosis.
What Happens to Your Test Sample?
What do Abnormal Results Indicate?
- Abnormal test results may indicate genetic disorders and several underlying diseases due to chromosomal anomalies in your body. Your physician will segregate the results of a karyotyping test into 2 categories. Abnormalities in
- -->The number
- -->The structure
- Abnormalities in the structure of the chromosomes diseases such as Prader Willi syndrome Ring chromosome (short and long arm of chromosome 13 tied together in a ring).
- Abnormalities in the number of chromosomes indicate various genetic disorders like
- -->Turner's syndrome (short stature, webbed neck, renal abnormalities)
- -->Klinefelter's syndrome (underdeveloped secondary sexual characters and reproductive organs, learning disabilities, and Infertility)
- -->Down's syndrome Patau's syndrome
- -->Edwards's syndrome
- _It has been advised to always consult with your doctor for interpreting the test reports_
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Frequently Asked Questions | FAQs
Can I avail of at-home sample collection in Pune?
Yes, you can avail at-home report sample collection through the MFine app. The application helps you book a test at your preferred date and time. However, it would help to visit the diagnostic center you chose while booking the appointment. Post-test, the reports will be delivered to your home.
What is the cost of a Karyotyping test in Pune?
The Karyotyping test (peripheral blood) for couples in Pune ranges from 6500 to 10,000 rupees. The price, however, may vary from laboratory to laboratory. It also depends on the infrastructure and the equipment used for the test. In addition, there may be an increase in the charges in case of urgent report delivery.
I stay in Delhi. Can I book a Karyotyping test for my father staying in Pune?
Through the MFine app, you can book a karyotyping test for your family and relatives who stay at different locations.
You can select the preferred city and time slot and book an appointment with the app.
However, a personal visit to the diagnostic center is necessary for the karyotyping test.
How can I reschedule my appointment for the Karyotyping test?
You manage your bookings through the MFine app. This app’s user-friendly interface allows you to reschedule the time and date of your appointment. However, you must visit your preferred diagnostic center at the fixed schedule for the karyotyping test.
Is the lab technician coming for the Karyotyping test report delivery vaccinated?
Yes. Our lab technicians are fully vaccinated. Further, they also ensure safety throughout by wearing a mask and using sanitizer and gloves during report delivery.
When is the Karyotyping test recommended?
Your healthcare provider will recommend the karyotyping test in situations like
- Recurrent miscarriages.
- Infertility issues.
- To detect chromosomal anomalies like Down’s syndrome.
- Pregnancy loss.
- Stillbirth.
- Certain cancers or blood-related disorders.
Also, if you have a history of genetic diseases running in your family, the physician will recommend this test.
Is a prescription required to book a Karyotyping test?
Yes. You must consult a genetic counselor or a physician before opting for the karyotyping test.
Your doctor will prescribe this test if you have already suffered from issues related to pregnancy. They may also recommend a karyotyping test to detect any genetic disorder in your body.
Does MFine provide result interpretation along with the reports?
Yes. MFine provides result interpretation along with the reports. Also, you will be able to avail a free doctor consultation after the lab test to understand your reports accurately. Our doctor will also advise and prescribe medicines based on the results.
Is the Karyotyping test definitive?
Yes, the outcomes of a karyotyping test are usually definitive.
What other tests are usually recommended along with the Karyotyping test?
Your doctor requires the karyotyping test to take a closer look at the chromosomes of your cells.
However, some chromosomal abnormalities can’t be detected by this test.
Therefore, doctors perform other tests such as Fluorescent in situ hybridization (FISH) or Microarray to investigate the abnormalities further.
What diseases can be detected through the karyotyping test?
Your doctor can detect several genetic and pregnancy-related disorders through the karyotyping test. Some of these diseases are
- Down’s syndrome
- Klinefelter’s syndrome
- Patau’s syndrome
- Prader Willi syndrome
- Edwards’s syndrome.
- Turner’s syndrome
- Certain cancers and blood-related diseases like leukemia, lymphoma, and multiple myeloma.
How can I download my Karyotyping test report?
Are there any discount offers running on Karyotyping tests in Pune?
Usually, you can avail yourself up to a 50% discount on Karyotyping test through MFine. However, the discount and test price may vary based on lab partner and location.