Diagnose

While the final diagnosis is made by a medical professional, it is just as important for families to contribute in helping get to the most definitive diagnosis possible. Reaching a genetic diagnosis and uncovering the cause of autism will directly change the care and support your child receives

A Clinical Diagnosis of Autism Is Not Enough

Getting a clinical diagnosis of autism is based on your doctor’s evaluation of your child. This is important, but further evaluation is necessary. Your doctor will look for signs and behaviors including 1. deficits in social communication and interaction and 2. unusual behavior, interests, or activities. However, these features are symptoms, like a runny nose and do not explain the cause of a possible cold.

Genetics Is Important

Guidelines issued by Pediatricians, Neurologists, Psychiatrists, and Medical Geneticists state how important it is for children to get genetic testing. Below are the many health benefits of genetic testing that the American College of Medical Genetics (ACMG) has published for doctors.

Children with autism and their families can benefit from:

  • Life-saving medical interventions
  • Prevention and treatment recommendation not previously considered
  • Predictions of future health risks and complications
  • Better information regarding family risk for relatives, siblings and future children
  • Disease support groups and other types of social support for families
  • Reaching the right answer quickly (without uncertainty or conflicting medical opinions)

Why do I need to know if my child has an underlying genetic condition?

Understanding if there is an underlying genetic cause for your child’s autism may provide you important information for your child’s care. For example, this may include what risks there may be for family members or what other systems in your child’s body your doctor may need to be concerned with. Similar to other medical problems, like allergies, it is important to know what is triggering your symptoms to understand how to best manage them.

How does a genetic cause affect the autism risk in my family?

Knowing the potential genetic cause of autism can allow us to understand the risk to other family members. For example, siblings of individuals that have an underlying genetic cause can have up to a 50% risk (this depends on what gene changes were found and if they can be passed from one generation to the next).

How common is autism due to genetics?

One in three individuals with autism is expected to have a genetic finding, such as changes in the chromosome or a single gene. Identifying these genetic findings can likely cause your doctor to make immediate changes in your child’s care; studies have also shown improvement in the parents’ quality of life.

Genetic Tests

Types of Genetic Tests

There are many genetic tests that your doctor may recommend and prescribe for your child. Some tests are targeted towards one specific condition while others can detect many conditions at once.

The majority of medical society guidelines issued for doctors who typically evaluate children with autism, developmental delay, and seizures all recommend genetic testing for these children. The tests recommended as first-tier (performed first after diagnosis of autism) include chromosomal microarray and fragile X testing. Testing for specific conditions, if suspected, may also be appropriate.

Click the various tabs to learn about different types of genetic testing like chromosomal microarray and fragile X testing.

Karyotype
What can the test diagnose?Can help diagnose select chromosomal conditions (i.e., Down syndrome)
What does the test look for?Looks for the right number of chromosomes (46) (similar to checking for all the chapters in a book); large missing/extra parts of chromosomes; or balanced rearrangements (parts of the chapter that have switched places)
How likely will it pick up a genetic change in someone with developmental disabilities?2 - 5%
What do medical experts recommend for patients with autism?No longer recommended as a first-tier test in those with autism
SNP testing for pharmacogenetics
What can the test diagnose?Can help identify patients who are faster or slower metabolizers of select drugs, which may affect drug choice and/or dose
What does the test look for?Looks for common variants in specific genes that affect how certain drugs are processed in the body
How likely will it pick up a genetic change in someone with developmental disabilities?Varies
What do medical experts recommend for patients with autism?Use when concerned about the response of certain drug therapies (e.g., prescribed for autism, ADHD)
 Fragile X testing 
What can the test diagnose?Can help diagnose fragile X syndrome, the number one cause of intellectual disability that runs in families
What does the test look for?Looks for different changes in the FMR1 gene that cause fragile X syndrome
How likely will it pick up a genetic change in someone with developmental disabilities?1 - 5%
What do medical experts recommend for patients with autism?Use as first tier test for someone (especially males) with autism or developmental delay of unknown cause
Chromosomal microarray
What can the test diagnose?Can help diagnose and/or rule out hundreds of chromosomal conditions that require management changes
What does the test look for?Looks for extra or missing parts of the chromosome (similar to checking for all paragraphs in a chapter)
How likely will it pick up a genetic change in someone with developmental disabilities?Up to 30% depending on lab
What do medical experts recommend for patients with autism?Use as first line test for someone with autism, developmental delay/intellectual diability, and/or multiple birth defects of unknown cause
Genetic sequencing
What can the test diagnose?Can help diagnose genetic conditions where the cause is a DNA letter change; does not look for chromosomal conditions
What does the test look for?Looks for changes in select genes one letter at a time (similar to spell checking the words in a paragraph). One gene, multiple genes, or thousands of genes may be tested all at once
How likely will it pick up a genetic change in someone with developmental disabilities?Varies
What do medical experts recommend for patients with autism?Use when concerned for a specific condition or family of conditions or as follow-up when chromosomal microarray is normal

How Does My Child Get Tested?

If you notice signs of autism, talk to a doctor about getting your child tested further, including genetic testing.

Genetic testing can be ordered by your general pediatrician, nurse practitioner and/or specialist doctor. When you and your doctor decide on testing, a cheek swab is collected and sent to a special genetics laboratory.

Visit www.lineagen.com/parents/ to learn more and sign-up for genetic testing support. For example, you may want genetic counseling services, help finding a doctor if you don’t have one, or pre-authorization and insurance support.