Steps involved in the diagnosis of a developmental disability through genetic testing

This article is based on a conversation with Dr. Prajnya Ranganath on the importance of genetic screening for the detection of intellectual disabilities.

There may be several underlying reasons for intellectual and developmental conditions.  Before genetic screening, it is important to determine if the condition has a genetic association or not. 

Clinical assessment:

The first step is to identify if the condition has a genetic basis or not. For this, it is important to consult a pediatric neurologist or clinical geneticist. The doctor will then take a detailed history of the child’s development.

The child is also examined to identify any features that might indicate any underlying genetic cause. In the presence of such features, further diagnostic tests may be recommended to understand the child’s condition. 

Diagnostic tests

Based on the clinical evaluation, further diagnostic investigation may be recommended. 

A common diagnostic test that is recommended is Magnetic Resonance Imaging (MRI). This is done in order to rule out any structural anomalies that may have taken place at the time of birth, that may have resulted in developmental differences. Based on these findings, doctors may recommend further testing to determine the underlying cause.

Therefore, a complete clinical assessment of the child with a developmental condition is very important.

To do so please visit a Clinical Geneticist or a Pediatric Neurologist. After thorough assessment the doctor may recommend case-specific genetic tests which can greatly help in formulating a plan of action to help manage your child’s condition.

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

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.