What is genetic testing, why is it important for a family?

This article is based on a conversation with geneticist Dr. Prajnya Ranganath. She shares valuable information about genetic testing for the detection of intellectual and developmental disabilities.

Developmental disabilities like neurodevelopmental disorders or intellectual disabilities may have several different causes attributed.

Around 50-70% of individuals with a developmental disability have a genetic basis associated with their condition. The genetic basis refers to the anomalies in the genes associated with specific proteins and their functions. Any anomalies or changes in the gene may result in improper functioning of the proteins often manifesting in developmental disorders. 

What is genetic testing?

Through genetic testing, it refers to diagnostic tests that help identify the anomalies in the genetic makeup that have resulted in the specific condition in the individual. These conditions can be at the gene level or at the chromosome level.

Therefore, it is essential that the developmental disorders are first diagnosed clinically and then a genetic test in accordance with the diagnosed contusion can be carried out. 

If it is more likely to be a chromosomal condition, then tests to determine chromosomal abnormalities can be done, such as karyotyping or chromosomal microarray. 

For single gene disorders, molecular genetic testing can be done to identify a single gene anomaly or multiple gene defects. More advanced gene testing like multi gene panel testing or exome sequencing, can be used to identify multiple gene anomalies.

Why is it important for the family?

It is essential to undergo genetic testing to try and identify any known genetic association for the underlying medical condition of the diagnosed individual.

If you have questions about Autism, Down Syndrome, ADHD, or other intellectual disabilities, or have concerns about developmental delays in a child, the Nayi Disha team is here to help. For any questions or queries, please contact our FREE Helpline at 844-844-8996. You can call or what’s app us. Our counselors speak different languages including English, Hindi, Malayalam, Gujarati, Marathi, Telugu, and Bengali.

DISCLAIMER: Please note that this guide is for information purposes only. Please consult a qualified health practitioner for safe management