Genetic Testing: Analysis of genes


Isn’t it fascinating to identify our chromosomes and genes? The mere idea of being able to predict any possible changes in the individual is exhilarating and this was once a dream of many scientists. But now this dream has come true, and we now have genetic testing. So, what is it? It is a method of analyzing a person’s genes, chromosomes and proteins to figure out if he/she is susceptible to any genetic disorder. It also helps to find out the probability of disorder in the offspring.


Genetic Testing

Benefits of Genetic Testing:

  • Diagnose genetic disorders
  • Predict the genetic makeup of the individual
  • DNA paternity testing
  • Prediction of the individuals’ ancestry

Genetic Testing: How is it done?

A sample of the individual’s hair, skin, blood or any biological fluid is taken and sent to the laboratory. Here the laboratory technicians after a thorough analysis of the chromosomes, genes, and proteins will send the report to the doctors.  While the patients receive the reports irrespective of the result, this differs in the case of newborn screening tests. The sample, in such cases, is usually collected from the baby’s heel and the reports are sent to the parents only if it is positive. A person must sign an informed consent at the beginning of the procedure.

Genetic Testing


  • New-born screening – to detect genetic disorders in new-born children.
  • Diagnostic testing – to diagnose genetic conditions in individuals based on their physical signs and symptoms
  • Carrier testing – done in individuals who are highly susceptible to hereditary disorders due to their family’s history
  • Prenatal testing – done in the fetus to detect chromosomal changes before birth which could result in the development of the genetic disorders in the child later on
  • Preimplantation testing – for detection of genetic changes in an embryo created by in-vitro fertilization
  • Predictive and pre-symptomatic testing – help identify mutations that increase the chance of genetic disorders
  • Forensic testing – identifies individuals based on their DNA sequences

While the method has its own perks, it still has some downfalls. This method can lead to emotional and financial exhaustion of the individual. But despite all this, it is still a very useful method in both clinical and non-clinical settings.

August 12, 2020

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