Beyond formal diagnosis, some families consider additional medical testing to learn more about their child’s underlying biological or physiological traits. These specialized tests may reveal patterns related to digestion, genetics, metabolism, or environmental exposures-and sometimes guide targeted health decisions.
Parents often seek these tests to:
A blood test that checks liver and kidney function, blood sugar, and electrolyte levels. It is helpful for identifying general health concerns that might impact overall well-being.
These tests may reveal delayed reactions to foods that could manifest as skin issues, digestive problems, or behavioral changes. Note: The clinical usefulness of these tests is sometimes debated, and results require interpretation by a professional. These are different from immediate, life-threatening food allergies.
Tests for environmental toxins like lead, mercury, and other metals in urine, hair, or blood samples. There are some studies that have examined connections between heavy metal exposure and autism symptoms. This testing area is controversial as research is considered inconclusive in the medical field and is still ongoing, also because it’s sometimes promoted alongside unproven and potentially dangerous treatments like chelation therapy.
If considering this testing, it’s essential to work with a qualified medical professional who can properly interpret results. This is because some commercial heavy metals tests lack proper standardization or may misinterpret normal variations as problematic.
Please note this testing is separate from routine lead blood testing that is a standard public health measure required for children in many states, especially for those enrolled in Medicaid, due to the established health risks of lead exposure. This is referring to more extensive heavy metal testing specifically for autism.
Identifies potential autism-related gene mutations. Can offer insights into prognosis, recurrence risk for future children, and sometimes provide actionable information for targeted medical or therapeutic approaches. Typically ordered through a specialist like a geneticist. Advances in genetic research have identified various genes associated with an increased risk of autism, and testing can sometimes provide a specific genetic diagnosis.
Assesses bacterial balance in the gut microbiome. May help explain digestive symptoms and guide dietary adjustments, given emerging research around the gut-brain connection. This involves analyzing stool samples to assess the composition and diversity of bacteria in the gut.
Work With an Experienced Practitioner: The science on the gut-brain connection is rapidly evolving, and results from these tests can be complex. Working with a medical professional who has specific experience in this area is critical to ensure the results are accurately interpreted and that any recommended changes are truly beneficial for your child’s health.
Costs Can Add Up Quickly: Many specialized tests aren’t covered by standard insurance, and out-of-pocket costs can range from hundreds to thousands of dollars.
Focus on Actionable Results: Before ordering any test, ask whether the results will lead to specific treatment changes or simply provide additional information without a clear next step.
Specialized testing can offer valuable insights when approached thoughtfully, but it requires:
When used wisely as part of a comprehensive care approach, specialized testing becomes one more tool to help personalize your child’s support and improve their quality of life.
Medical Disclaimer: This information is for educational purposes only and should never replace professional medical advice. Every child with autism is unique, and what works for one family may not be appropriate for another. Always consult with qualified healthcare providers before starting any new treatment, supplement, or dietary change. Some interventions mentioned here are experimental or carry significant risks-your child’s safety must always come first.
See next blog in this series: Building Your Autism Healthcare Team