Genetic Testing for Autism: Answers to the Questions Parents are Asking
When parents first receive an autism diagnosis for their child, there’s often a flood of emotions—and a flood of questions. One question I hear often is, “Should we consider genetic testing?”
As an ABA therapist, I’ve supported many families through this crossroads. My goal is always to offer clear, compassionate information, so you feel empowered to make the choices that are right for your child and your family.
Let’s walk through what genetic testing for autism really means—and what it can (and can’t) tell us.
Understanding Genetic Testing for Autism
What is Genetic Testing?
Genetic testing looks at your child’s DNA to find differences, or mutations, that might be linked to developmental conditions, including autism.
There are several types of genetic tests, but common ones recommended after an autism diagnosis include:
- Chromosomal Microarray (CMA): Looks for small missing or extra pieces of chromosomes.
- Whole Exome Sequencing (WES): Examines the parts of DNA that code for proteins, which can reveal rare genetic conditions.
- Fragile X Testing: Specifically checks for Fragile X syndrome, a known genetic cause of autism-like symptoms.
Why is Genetic Testing Offered for Autism?
Doctors may suggest genetic testing to:
- Understand if a known genetic condition is present.
- Provide families with more information about future medical needs.
- Guide additional testing, behavioral therapies, or support.
- Offer information for future family planning.
Knowing whether there’s a specific genetic factor doesn’t change who your child is—but it might help you anticipate needs and access services faster.
What Genetic Testing Can (and Cannot) Tell You
What You Might Learn
Genetic testing can sometimes reveal:
- A known genetic condition that overlaps with autism (like Fragile X or Rett syndrome).
- A “variant of unknown significance,” meaning a gene change was found, but its effects aren't fully understood yet.
- No identifiable genetic cause (this happens often and doesn’t mean autism isn’t real or valid).
What Genetic Testing Won’t Predict
Even if a genetic cause is found, testing usually cannot:
- Predict your child’s future abilities, strengths, or challenges.
- Tell you how “severe” or “mild” your child’s autism will be.
- Provide a cure or a clear map of what to expect.
In my work, I’ve seen that while genetic testing can offer helpful pieces of the puzzle, it’s your child's daily experiences, strengths, and support system that shape their journey most.
Pros and Cons of Genetic Testing for Autism
Potential Benefits
- Peace of mind: Some families feel relief having more answers.
- Planning for the future: Certain genetic conditions can guide medical care or education decisions.
- Community connections: Specific diagnoses can connect families with specialized support groups.
Possible Challenges
- Unclear results: Many families receive ambiguous answers, leading to more questions.
- Emotional stress: Learning about genetic conditions can bring up fear or grief.
- Cost and access: Not all insurance plans cover genetic testing, and out-of-pocket costs can be significant.
Every family’s situation is different. What matters most is choosing the path that feels supportive and informed for your child and your values.
When Should Families Consider Genetic Testing?
Discuss It with Your Child’s Doctor
If your child has been diagnosed with autism, your pediatrician or developmental specialist may recommend genetic testing, especially if:
- There are physical differences alongside autism traits.
- There is a family history of genetic conditions.
- Your child has other medical challenges, such as seizures or developmental delays.
Genetic counselors can also guide you through the decision, explaining potential outcomes in a caring, family-centered way.
Factors to Think About
When considering genetic testing for autism, some questions families often reflect on are:
- Will knowing a genetic cause change how we support our child?
- Are we emotionally prepared for different kinds of results?
- Do we want this information for future family planning?
Choosing whether or not to pursue genetic testing for autism is a deeply personal decision.
Whatever you choose, remember:
a test result will never define your child’s worth, potential, or your family’s love.
At Inclusive ABA, we celebrate every child's unique journey. Whether you have a clear genetic picture or unanswered questions, our therapists are here to support your family with compassionate, individualized care.
If you're ready to learn more about how we can walk this path with you, reach out to Inclusive ABA today. Let’s build a future full of growth, understanding, and joy—one step at a time.
FAQs

Should every child with autism get genetic testing?
Not necessarily. While it’s becoming more common, it’s a personal decision. Families should talk with their doctors and genetic counselors to weigh the benefits and potential challenges.
Will genetic testing tell me why my child has autism?
It might offer clues, but it often doesn’t give a complete answer. Many children with autism have no identifiable genetic cause on current tests.
Does genetic testing replace the autism diagnosis?
No. Genetic testing is a tool for information. It doesn’t change or take away a clinical autism diagnosis made through developmental assessments.
Sources:
- https://www.autismspeaks.org/expert-opinion/genetic-testing-autism
- https://fragilex.org/fxs/autism/autism-diagnosis-genetic-testing/
- https://utswmed.org/medblog/autism-genetic-testing-pregnancy/
- https://www.bcchr.ca/news/autistic-perspectives-genetic-testing
- https://www.ualberta.ca/en/folio/2023/04/genetic-testing-offers-insight-to-improve-care-for-youth-living-with-asd.html
- https://pmc.ncbi.nlm.nih.gov/articles/PMC7786819/
