Karyotype Test – An Important Test to Evaluate Chromosomal Disability

Karyotype is a blood test that is performed to identify and evaluate the size, shape and the number of chromosomes present in the sample of the body cells. The absence of chromosomes or presence of extra chromosomes in the body can cause several types of growth and development disorders. The three major types of Karyotype disorders are – Klinefelter syndrome (XXY), Turner Syndrome (X) and Down syndrome (Trisomy 21).

Why is Karyotype test done?

Karyotype test is performed to –

  • Find out whether any chromosomal changes can be passed on to the child.
  • Find out whether any chromosomal defect is preventing a woman from becoming pregnant or causing miscarriages.
  • Find out if the foetus has any chromosomal disability or any birth defects.
  • Determine the appropriate treatment options for certain types of cancers.
  • Identify the gender of a person by checking the presence of Y chromosome.

How to prepare for the test?

Before performing the test, it is suggested that one must consult the doctor about the need for this test, its risk factors and how it will be performed. This will help the patient to understand the importance of this examination. Since karyotype test results can have a profound impact on the life of the patient, therefore, it is highly recommended to go for a specialist, who specializes in genetic, known as a geneticist or genetic counsellor. Only a specialist can help the patient to make well-informed decisions.

How is the test performed?

Karyotype test is done by using a blood sample taken from a vein of the arm. During pregnancy, the test is performed on a sample of amniotic fluid or the placenta.

Cells are taken from foetus – In this, the cells are collected from the foetus with the help of amniocentesis or chronic villus sampling.

Samples taken from bone marrow – For performing a karyotype test, sometimes, sample of cells are taken from bone, arrow aspiration.

What does abnormal test result mean?

An abnormal test result indicates that there are more than or fewer than 46 chromosomes present in the blood. The size and shapes of the chromosomes are abnormal in nature. It also indicates that a pair of chromosome may be broken or inappropriately separated. A Karyotype test cost is inexpensive in nature and possesses minimal or no threat to life.

Karyotype test sometimes also performed as a part of an annual health checkup package.  If you a resident of Indore and looking for good health checkup packages in Indore, opt for the annual packages offered by Dr Lal PathLabs at the most budgeted price range!


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