Genetic Testing

Genetic testing is a kind of laboratory test method, it is used to analyse chromosomes which include information for body functions and genes. Genetic testing is done to determine the changes and mutations in genes and chromosomes. Genetic testing  helps to detect the cause of diseases like hereditary diseases by detecting the changes in DNA.

Purpose of  Genetic Testing

Genetic testing may be done for different reasons like these;

  • 1- Diagnosis; if person has symptoms of a genetic disorder because of a genetic mutation or change , genetic testing is done to determine this change. Problem would be diagnosed by this way.
  • 2- Detecting familiarity of a disease;  if you have a family history about a genetic disease, genetic testing is done to detect your risk about this problem.
  • 3- Identifying if you carry a gene for a disease or not; if any of your family member has a genetic disease, genetic testing may be done to identify  if you are a carrier of  this genetic  problem and the risk of passing it to your children.
  • 4- Screening your baby before birth about a genetic problem; if you are pregnant, genetic testing may be done to detect a genetic disease in your baby like; Down syndrome or Trisomy 18. Genetic testing can be done in amniocentesis fluid or placenta material.
  • 5- Preimplantation genetic diagnosis; These genetic tests are done to find the genetic anomalies before in vitro fertilization process (test-tube baby procedure). Fertilizated egg is analysed about the genetic disorders before placing into the woman’s womb.
  • 6- Finding personal treatment methods; some drugs affect better in some genetic conditions, if patient’s genetic is not suitable, using the certain medical treatment would not be successful. Genetic testing may be done to determine the proper medicine and dose for a patient.

genetic testing

Genetic Testing  Laboratory Samples

  • Blood Cell: A blood sample is taken from arm vein into a special laboratory test tube for DNA collection.
  • Mucosa Cells: (Cheek Swab, also called buccal swab) A swab is rubbed into the mouth to collect mucosa cells.
  • Embryo Cells: Embryo’s cells are collected for genetic testing by amniocentesis or chorionic villus sample ( tissue sample from placenta).

Genetic Testing Resulting Time

Genetic testing needs some preparation process in laboratory. Some laboratory tests may be easier and take short time like fasting blood sugar. Only centrifugation process would be enough as a preparation for this test but genetic tests need more pretest process than others. Genetic material should be collected from the genetic cell sample by breaking up the cell membrane and nucleus membrane then necessary genetic test may be done meticulously. This procedure needs maximum attention to avoid any mistake during process, so genetic tests may take more time than other laboratory tests.

Genetic Testing Evaluation

Positive Results

Positive results of genetic testing mean that you have the researched genetic changes or mutations. Your doctor may evaluate your result or suggest you a genetic counselor.

Negative Results

If your results are negative for genetic testing this means you don’t have that gene change or mutation.


Leave a Reply