GENETIC TESTING

What are genes? 

The human body is made up of many cells that contain genetic material, which holds the characteristics that make each individual unique. While some genes may determine traits such as hair or skin color, others may be linked to genetic conditions or may have no significance at all. 

What is a genetic condition? 

The human body is composed of billions of individual cells, most of which contain 23 pairs of chromosomes. These chromosomes house approximately 21,000 genes that serve as a blueprint for how the human body develops. These genes instruct the body on how to grow and function properly. 

Why do genetic conditions occur? 

Genetic conditions can arise due to issues with chromosomes or specific genes. These conditions can be inherited across generations or may occur for the first time in a child. 

Why should my child have a genetic test? 

In the field of child neurology, certain neurological conditions may have a genetic basis, particularly if there are concerns regarding growth or development. Thanks to technological advances, it can often be more efficient to conduct a single genetic test rather than multiple examinations. For children experiencing epilepsy, genetic tests can provide insights for precision medicine, ensuring the best possible treatments for seizures. 

What types of genetic tests are there? 

Chromosome analysis (karyotype) involves examining your baby’s chromosomes under a microscope to verify the correct number and arrangement. Microarray studies provide a more detailed look at chromosomes to check for any small pieces that may be missing or duplicated. Rarely, these studies may reveal abnormalities that are unrelated to the baby's current issues but could affect their future health. Molecular (DNA) studies focus on specific genes. The type of test performed typically depends on the problems your child is experiencing and can identify whether a segment of a gene is absent or malformed. It is standard practice to store a DNA sample for potential further testing in the future. 

How is the genetic test done? 

A genetic test is typically a blood test sent to a laboratory for analysis. Some genetic tests may yield results within two weeks; others may take about six weeks or even several months. The doctor who orders the test will inform you about when to expect the results and how they will be communicated to you. 

Will it affect my insurance? 

As of April 2025, health insurance policies in India are required to cover genetic disorders. It is advisable to check with your specific insurance provider for further details. Please refer to the link below for more information from IRDAI. 

How do I find more information about my child's genetic results? 

The best approach is to schedule an appointment with your doctor to discuss the results of the genetic test. Once your doctor confirms any genetic conditions, you can look up more information on the UNIQUE website provided below.

Dr Rashmi Adiga

Consultant Paediatric Neurologist