Genetic Testing for Autism: What Parents Should Know

Smiling mother and daughter speaking with a doctor holding a syringe in a clinic.

When a child receives an autism diagnosis, families naturally begin searching for answers. At Little Champs ABA, across our Colorado and Utah programs, we often see parents wrestling with whether genetic testing will provide clarity.

I once worked with parents who felt caught between hope and fear. They hoped testing would explain everything. They feared what it might reveal. That tension is common — and valid.

Before deciding, it’s important to understand how genetic testing fits into the broader picture of autism care.

Why Parents Consider Genetic Testing

Before discussing test types, it helps to understand the motivations behind the question.

Most parents want clarity — not just data.

Common Questions Families Ask

In our clinical conversations, families often want to know:

What caused my child’s autism?
Is this inherited?
Could this affect future pregnancies?
Does this mean there are other medical risks?
Will testing change therapy recommendations?

These are valid, thoughtful questions. Genetic testing sometimes provides answers — but not always in the way families expect.

What Genetic Testing for Autism Actually Is

Genetic testing looks for chromosomal differences or gene variations that are associated with developmental conditions.

It does not diagnose autism. Autism remains a behavioral and developmental diagnosis based on clinical evaluation.

How Autism Is Diagnosed vs. How Genetics Are Studied

Autism diagnosis is based on:

Social communication differences
Repetitive or restricted behaviors
Developmental history

Genetic testing examines biological markers that may help explain underlying mechanisms — but most autistic individuals do not have a single identifiable genetic “cause.”

Autism is considered polygenic, meaning many genes contribute small effects.

Common Types of Genetic Tests Recommended

The American Academy of Pediatrics recommends offering certain genetic tests to children diagnosed with autism, particularly when additional medical concerns are present.

Chromosomal Microarray (CMA)

Chromosomal microarray is often the first-line test.

It can detect:

Small deletions or duplications of genetic material
Copy number variations linked to developmental syndromes

CMA identifies a genetic explanation in roughly 10–20% of cases, depending on the population studied.

Fragile X Testing

Fragile X syndrome is one of the most common inherited causes of intellectual disability and can present with autism characteristics.

Testing is especially recommended when:

There is intellectual disability
There is a family history of developmental delay
The child is male with developmental concerns

Whole Exome Sequencing (WES)

Whole exome sequencing analyzes protein-coding regions of genes.

It may be considered when:

CMA results are negative
There are multiple medical concerns
A rare genetic syndrome is suspected

WES can identify rare variants — but it also frequently identifies variants of uncertain significance (VUS), meaning science does not yet fully understand their impact.

What Genetic Testing Can Tell You

When testing identifies a known genetic condition, it can influence medical management.

Medical Monitoring and Risk Awareness

Some genetic findings may indicate elevated risk for:

Seizures
Cardiac concerns
Gastrointestinal issues
Connective tissue disorders

In one case I worked on, a child’s testing revealed a rare genetic syndrome associated with seizure risk. That result didn’t change our ABA programming directly — but it allowed the family to pursue early neurological monitoring.

That kind of information can be empowering.

What Genetic Testing Cannot Tell You

It’s equally important to set realistic expectations.

It Rarely Provides a Single Clear “Cause”

In most cases, genetic testing does not return a simple answer.

Results may be:

Negative
Inconclusive
Showing variants of uncertain significance

For many families, the absence of a definitive answer can feel frustrating.

Autism typically reflects complex genetic interactions — not a single mutation.

It Does Not Replace Intervention

Regardless of genetic findings, the core intervention approach remains the same.

Through services such as:

…we focus on communication, independence, emotional regulation, and adaptive skill-building.

Genetic testing informs medical care.
It does not change the importance of structured behavioral intervention.

Emotional Considerations for Parents

Genetic testing can trigger strong emotions.

Guilt, Relief, and Uncertainty

I’ve seen parents feel guilt when a variant is inherited. I’ve also seen relief when a mutation is identified as de novo (new and not inherited).

It’s essential to understand:

Autism is not caused by parenting.
Most genetic variations are beyond personal control.
Testing is about information — not fault.

Genetic counseling before and after testing is strongly recommended to interpret results accurately.

How Genetic Testing Affects Future Family Planning

Families often pursue testing to understand recurrence risk.

Understanding Recurrence Risk

If a specific inherited mutation is identified, recurrence risk may be more clearly estimated.

If testing is negative, recurrence risk is estimated statistically — often higher than the general population but not deterministic.

A genetic counselor can provide individualized risk assessment based on family history and findings.

How We Guide Families in Clinical Practice

When families ask whether they should pursue testing, we don’t give a blanket answer.

Questions We Encourage Parents to Consider

Are there additional medical concerns?
Would the results change medical monitoring?
Are you prepared for uncertain findings?
Do you want clearer recurrence data?

There is no universally correct decision. The right choice depends on your goals.

What we consistently emphasize is this:
Your child’s growth will be shaped far more by early, individualized support than by the presence or absence of a genetic finding.

Information Can Clarify — Intervention Drives Progress

Genetic testing for autism can provide meaningful medical insight, especially when additional health concerns are present.

But it rarely provides a simple, definitive answer to “why.”

What consistently influences long-term outcomes is:

Early intervention
Communication development
Structured skill-building
Family support systems

At Little Champs ABA, we work with families across Colorado and Utah to build practical, functional skills — whether or not genetic testing identifies a variation.

If you’re navigating diagnosis and considering your next steps, we’re here to help you think clearly and plan confidently.

Contact us today to schedule a consultation and learn how our evidence-based ABA programs can support your child’s development — now and into the future.

FAQs

1. Does genetic testing diagnose autism?

No. Autism is diagnosed through behavioral and developmental evaluation, not genetic testing.

2. Should every child with autism get genetic testing?

The American Academy of Pediatrics recommends offering certain genetic tests, but the decision is individualized.

3. What is chromosomal microarray testing?

It is a test that detects small genetic deletions or duplications associated with developmental conditions.

4. What happens if genetic testing is negative?

A negative result is common and does not rule out autism or change the diagnosis.

5. Can genetic testing predict how severe autism will be?

No. Genetic findings rarely predict developmental outcomes or level of support needs.

6. Does genetic testing change ABA therapy?

In most cases, no. Behavioral intervention remains the primary evidence-based treatment.

7. Is autism inherited?

Autism has a strong genetic component, but it usually involves multiple genes rather than a single inherited mutation.

8. Will genetic testing affect future pregnancies?