Autism Biomedical Testing

What you will learn: 

What is Autism Biomedical Testing? 

Why does my child need Autism Biomedical Testing? 

What types of Autism tests does Cortica provide? 

Estimated reading time: 15 minutes


So, your child has received an autism spectrum disorder (ASD) diagnosis, what’s next? While there’s currently no one-size-fits-all approach to autism, there are certain essential elements of an effective approach to care. One element is biomedical testing to determine which medical therapies are most appropriate for your child.

What is Autism Biomedical Testing?

What biomedical testing does Cortica provide? The word biomedical means relating to both biology and medical science. In the field of autism, the term “biomedical” is widely used to refer to a specific approach to treatment that considers the biological basis of autism and targets those biological processes as part of an individual’s medical care. Genetic tests are one type of biomedical test that can help you and your doctor develop a better understanding of your child’s unique biology and decide which medical therapies will offer the best support.

Why does my child need autism biomedical testing?

Many known medical causes can contribute to brain differences that give rise to the features of autism. Some of these are treatable. After an autism spectrum disorder (ASD) diagnosis is made, biomedical testing can help ensure that the best treatment strategies are implemented. 

Is there a genetic test for autism?

There is currently no medical or genetic test - like a blood test or a picture of the brain - to diagnose autism. Rather, the diagnosis of autism is based on a child’s behavior and development. To reach an accurate diagnosis, a child may go through an evaluation process with a clinical psychologist, a nurse practitioner, a pediatric neurologist, or a developmental pediatrician with expertise in neurodevelopment. After an Autism diagnosis is made, there are further biomedical tests that can be ordered to guide your child’s treatment plan. Learn more about Cortica’s Autism screening test process here. 

What types of biomedical tests does Cortica provide for autism?

There are many different types of biomedical tests that can be helpful for guiding Autism treatment. We may order some or all of the following laboratory tests, depending on the child’s symptoms and diagnoses: 

  • Chromosomal microarray analysis

Chromosomal microarray analysis is a high-resolution genetic test that can identify small regions of abnormalities in chromosomes called copy number variants (CNV).On occasion, an individual may have an extra copy (duplication) or a missing copy (deletion) of a small region of a chromosome. If a duplication or deletion is detected, it can help us better understand an individual’s unique biology and make decisions about medical treatments. This test can be done on a small sample obtained by a cheek swab, saliva, or blood. 

  • Whole exome sequencing 

Whole exome sequencing is an advanced genetic test that looks at genetic information in a different way from chromosomal microarray analysis. Whole exome sequencing can identify alterations (single gene mutations) in thousands of genes. This test can be done on a small sample obtained by a cheek swab, saliva, or blood. The result of this test can help identify contributing factors for a child’s developmental differences and potential medical therapies 

  • Gene sequencing panels for neurodevelopmental disorders, epilepsy, mitochondrial disorders, and others 

For some individuals, whole exome sequencing may not be needed, and a gene sequencing panel may be preferred. These panels identify alterations in a smaller number of genes and are often lower cost compared to whole exome sequencing. This test is an option if your physician feels that it would be appropriate to sequence a limited number of genes.

  • Single nucleotide polymorphism testing (including MTHFR) 

Genes can come in different versions, and different versions can affect the body differently. These gene variants may not directly lead to disease, but they can still have significant effects on one’s health. Single nucleotide polymorphism tests, such as MTHFR testing, can help your doctor make decisions about what types of dietary changes, nutritional supplements, or medications may be helpful. 

  • Metabolic tests (including mitochondrial testing) 

Metabolism is a term that refers to the way the body takes in nutrients and converts them into energy for all the body’s functions. Disturbances of metabolism can contribute to autism and other developmental differences, and some of these disturbances are treatable. Mitochondrial dysfunction is one type of metabolic disturbance that is common in autism. There are blood and urine tests that can be done to evaluate an individual’s metabolic function and guide treatment.

  • Comprehensive stool analysis 

A stool analysis can provide information about the digestive function, the gut microbiome, and overall gut health. The test can be done on a sample of stool collected at home. The results of the test can help your physician or nurse practitioner make decisions about which foods, supplements, or medications may support your child’s health.

  • Pharmacogenomic testing 

Pharmacogenomic testing is a type of genetic testing tailored to provide information that can help when selecting medications. A person’s unique genetic profile can determine how they may respond to medication. Pharmacogenomic testing can be done using a sample taken by a cheek swab, and the results can help your physician select a medication that’s likely to help and less likely to cause side effects.

  • Electroencephalography(EEG) 

Electroencephalography (EEG) is a technique used to record the electrical activity of the brain. For an EEG, multiple electrodes are placed on the patient’s scalp to measure features of the brain’s spontaneous electrical activity. The most common reason for an EEG is to aid in the diagnosis of seizures. This test can also provide information about an individual’s sleep – in particular, the brain’s progression through the different stages of sleep and whether this is disturbed. Learn more about why and when EEGs are recommended for children with autism and other developmental differences.  

  • MRI 

Brain Magnetic Resonance Imaging (MRI) is a type of brain scan that uses a high-power magnet to generate images of the brain. The most common reason for a brain MRI is to take a close look at the brain’s structure. The images may show areas of the brain that have not formed properly, areas of the brain that have been injured, abnormal blood vessels, areas of inflammation, cysts, tumors, or other abnormalities.

Electroencephalography (EEG) and genetic tests can be performed at a Cortica center. Other tests can be ordered by our team and performed at other laboratories or healthcare facilities near you.

Learn more about our services or Make an Appointment at any of our Locations. Explore the Cortica Care Model: Treatments & Therapies for Autism