There are blood and urine tests that can be done to evaluate an individual’s metabolic function and guide treatment.Ī stool analysis can provide information about the digestive function, the gut microbiome, and overall gut health. Mitochondrial dysfunction is one type of metabolic disturbance that is common in autism. Disturbances of metabolism can contribute to autism and other developmental differences, and some of these disturbances are treatable. 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. Metabolic tests (including mitochondrial testing) 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. These gene variants may not directly lead to disease, but they can still have significant effects on one’s health. Genes can come in different versions, and different versions can affect the body differently. Single nucleotide polymorphism testing (including MTHFR) This test is an option if your physician feels that it would be appropriate to sequence a limited number of genes. These panels identify alterations in a smaller number of genes and are often lower cost compared to whole exome sequencing. Gene sequencing panels for neurodevelopmental disorders, epilepsy, mitochondrial disorders, and othersįor some individuals, whole exome sequencing may not be needed, and a gene sequencing panel may be preferred. The result of this test can help identify contributing factors for a child’s developmental differences and potential medical therapies This test can be done on a small sample obtained by a cheek swab, saliva, or blood. Whole exome sequencing can identify alterations (single gene mutations) in thousands of genes. Whole exome sequencing is an advanced genetic test that looks at genetic information in a different way from chromosomal microarray analysis. If a duplication or deletion is detected, it can help us better understand an individual’s unique biology and make decisions about medical treatments.

We may order some or all of the following laboratory tests, depending on the child’s symptoms and diagnoses:Ĭhromosomal 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. There are many different types of biomedical tests that can be helpful for guiding Autism treatment. What types of biomedical tests does Cortica provide for autism? Learn more about Cortica’s Autism screening test process here. After an Autism diagnosis is made, there are further biomedical tests that can be ordered to guide your child’s treatment plan. 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. Rather, the diagnosis of autism is based on a child’s behavior and development. There is currently no medical or genetic test - like a blood test or a picture of the brain - to diagnose autism. After an autism spectrum disorder (ASD) diagnosis is made, biomedical testing can help ensure that the best treatment strategies are implemented. Many known medical causes can contribute to brain differences that give rise to the features of autism. Why does my child need autism biomedical testing? 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. 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. What biomedical testing does Cortica provide? The word biomedical means relating to both biology and medical science. One element is biomedical testing to determine which medical therapies are most appropriate for your child. 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. 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

Blood test for autism spectrum disorder