Is Autism Genetic? Can We Test for It?

Is Autism Genetic? Can We Test for It? This is a very important question: “Is my child’s autism genetic, and can we test for it?” Let’s look at the answer in two parts — first, the genetic connection, and then the available tests.

Is Autism Genetic?

Yes, autism has a strong connection to genetics. Research has shown that genes play a big role in causing Autism Spectrum Disorder (ASD). In 2024, a group of scientists called the Autism Sequencing Consortium found over 230 genes linked to autism — this is three times more than what was known earlier. These genes help with brain cell communication and are also connected to the immune system.

If someone in your family — like a parent or sibling — has autism, the chances are higher that another child may have it too. For twins, if one has autism, the other twin has a 36% to 95% chance, depending on whether they are identical or not.

However, genes are not the only reason. Environmental factors also play a role. A mother’s health during pregnancy, high stress, infections, or exposure to certain chemicals can increase the chances. So, it is not correct to say autism is caused only by genes — usually, it’s a mix of both genes and environment.

Can We Test for It?

Yes, there are tests that can find out if autism has a genetic cause, and these tests are available in India too. These tests study the child’s DNA to look for any changes or mutations that are linked to autism.

Here are the common types of tests:

✅ 1. Whole Exome Sequencing (WES)

• This test checks the parts of the genes that give instructions for making proteins.
• It can find rare gene changes related to autism.
• According to a 2024 study in India, the WES test found the genetic cause in 24% of autism cases, i.e., the genetic cause of autism was found in 24 out of every 100 children.

In simple words

We have thousands of genes in our bodies, and some of them can go wrong (mutation), which can lead to conditions like autism.
The WES test checks the part of those genes that is most important.

Why is this test used?

This test looks for rare gene changes (mutations) that may be linked to autism.

✅ 2. Chromosomal Microarray (CMA)

✅ What is Chromosomal Microarray (CMA)?

This is a genetic test that looks for major changes in chromosomes, such as when some part of a chromosome is missing or an extra part is present. These changes can sometimes be the cause of autism or developmental delay.

✅ What does one get to know?

• Is there a major genetic cause of autism or not
• This test is quite useful, especially when there is no doubt about a specific gene
• It is less detailed than WES (Whole Exome Sequencing), but is helpful as a first step

✅ 3. What are Targeted Gene Panels?

This test only checks some specific genes – the same genes that are already considered to be associated with autism. Such as:

• SHANK3
• PTEN
• CHD8

✅ What does one get to know?

If autism is related to a specific gene, this test is fast and affordable, but can miss rare or new mutations. This test looks for larger changes in chromosomes, like missing or extra pieces. It is less detailed than WES but still useful, especially as a first step.

Test Name	What does it check?	Benefits	Limitations
Chromosomal Microarray (CMA)	Major changes (missing or extra parts) in chromosomes	Useful for the first step	Not every gene mutation is visible
Targeted Gene Panels	Checks only a few non-autistic genes	Fast and cheap	Rare or new gems may be missed

Where Can You Get It Done in India?

You can get genetic testing done in several places:

DNA Labs India –

• Available in big cities like Delhi, Mumbai, and Bangalore.
• Cost: ₹20,000 to ₹50,000.

Hospitals and Research Centers –

• Institutes like AIIMS (Delhi), NIMHANS (Bangalore), and Apollo Hospitals offer these tests.
• You can ask your child’s pediatrician or neurologist for a referral.

Online Testing Services –

Some companies like Metropolis India offer test kits that can be used from home and then sent to the lab.

Is This Testing Necessary?

It depends on your situation. The test is not required for every child, but it can be helpful, especially if:

• There’s a family history of autism or similar conditions.
• You want to understand the cause of your child’s condition.
• You are thinking about future children and want to check the risk.
• You are looking into more targeted therapies for your child.

But keep in mind, these tests do not give 100% answers in all cases — autism is complex, and not all causes are known yet.

What Should You Do Next?

If you are thinking about getting a genetic test, it’s best to talk to your child’s doctor or a genetic counselor. They will guide you on which test is most suitable based on your child’s symptoms and family history.

If a genetic cause is found, it may help in planning future treatment, such as personalized therapies or even newer treatments in development (called precision medicine) that may help with speech, behavior, and learning.

Summary (Quick Points):

• Yes, autism has a strong genetic link.
• Yes, genetic testing is available and can find gene changes linked to autism.
• Testing is not mandatory, but it may help you understand the cause or plan for the future.
• Always speak to a doctor or genetic counselor before deciding on any test.

Disclaimer: This information is for educational purposes only. Please consult a medical professional before making any health decisions.

Frequently Asked Questions (FAQ’s)