Karyotype Genetic Test

What is Karyotype Genetic Test?

A karyotype genetic test is a type of genetic test to discover and examine chromosomal abnormalities. It determines the number and structure of an individual’s chromosomes, and can detect changes like extra or missing chromosomes, or determine whether an individual is a male or female.


The procedure for karyotype genetic testing includes the following steps:

  • A sample of the individual’s cells is taken. This can be a blood sample, amniotic fluid, or biopsy.
  • The cells are treated with special chemicals, and the sample is stained so that the chromosomes can be easily seen under a microscope.
  • The chromosomes are then photographed and studied.

Types of Karyotype Genetic Test

There are different types of karyotype genetic tests, depending on the type of tissue being tested and the purpose of the test.

  • Amniocentesis: A type of karyotype test that is used to determine potential chromosomal abnormalities in a fetus.
  • FISH (Fluorescence In-Situ Hybridization): A technique for detecting specific genetic changes, such as a translocation of chromosomal material, by using fluorescently labeled DNA.
  • Southern blotting: A technique for analyzing a specific gene or group of genes by cutting the DNA into fragments and transferring it to a blot for further analysis.
  • PCR (Polymerase Chain Reaction): A technique for amplifying specific DNA segments for detection and analysis.

Risks of Karyotype Genetic Tests

There are some risks associated with karyotype genetic tests, including:

  • The procedure carries a risk of miscarriage.
  • The procedure may cause infection or complications.
  • The results of the test may be uncertain or inconclusive.

Why a Karyotype Genetic Test?

Karyotype genetic tests can be used to detect chromosomal abnormalities that may cause genetic disorders or birth defects in a fetus, or to diagnose abnormalities in an individual’s chromosomes that may be causing health problems. They can also be used to identify genetic diseases and conditions, such as Down Syndrome and Turner Syndrome.

When to Take a Karyotype Genetic Test?

A karyotype genetic test may be recommended in the following situations:

  • Suspected genetic disease or chromosomal abnormality.
  • Known genetic disease or chromosomal abnormality in the family.
  • Maternal age over 35.
  • If there is a parental consent for diagnosis of genetic disorder or birth defect.
  • Suspected fetal abnormality.