Understanding Autism Genetic Testing

Autism spectrum disorder (ASD) is a complex condition that affects communication, behavior, and social interactions. Though the exact causes of autism are still unknown, researchers have come to understand that genetic factors play a significant role in its development. Genetic testing is one approach to gain a better understanding of this condition.

What is Autism Genetic Testing?

Genetic testing is a procedure that examines a person’s DNA to determine if there are any mutations or alterations that could potentially lead to genetic disorders like autism. It involves analyzing a person’s genes and their chromosomal makeup to look for any clues that could point towards a diagnosis.

There are various types of genetic tests that can be performed depending on the individual’s symptoms and the suspected underlying genetic variations.

The most common forms of genetic testing for ASD are:

  • Chromosomal microarray testing
  • Whole exome sequencing (WES)
  • Targeted gene sequencing

Chromosomal Microarray Testing

Chromosomal microarray testing involves looking at the entire genome to detect any small deletions, duplications, or rearrangements. It can identify chromosome differences that may be the cause of cognitive or developmental disorders.

This form of testing is particularly helpful in detecting the deletion or duplication of a specific gene on the X chromosome, known as the SHANK3 gene. A mutation of this gene has been linked to autism, and the test can detect an increase in the amount of genetic material on this chromosome, which can help with early diagnosis and treatment.

Whole Exome Sequencing (WES)

WES is a testing method that examines the exome, which is the part of DNA that carries instructions for making proteins in the body. Often, genetic mutations that cause ASD are located within this portion of the genome.

This testing method is more efficient in detecting rare genetic variants that may be responsible for autism. It can detect approximately 85% of genetic mutations involved in ASD, making it a useful method in the diagnosis of the condition.

Targeted Gene Sequencing

This type of testing looks specifically at genes that are known to be related to autism. It involves testing for specific mutations that are known or suspected to be involved in this condition.

Targeted gene sequencing has been shown to be an effective method of identifying the underlying genetic causes of ASD. However, it is not as comprehensive as some of the other testing methods and may require more than one test to be conclusive.

Why is Genetic Testing for Autism important?

Genetic testing for Autism is important because it can provide confirmatory diagnosis or exclude certain types of autism that might indicate a different therapeutic plan. It helps families to make informed decisions about their children’s care, enables tailored treatment and intervention programs, and provides information for genetic counselling activities within families for siblings, carriers, or family planning purposes.

It also has implications for future medical care, including genetic counseling for the family members, especially for those with a family history of ASD or other genetic conditions. Understanding the underlying genetics of the condition can even provide researchers with new areas of focus for treatment and intervention strategies.

What are the challenges with ASD Genetic Testing?

As with any type of genetic testing, there are challenges to autism genetic testing. Some of these challenges include:

  • The cost of the test may not be covered by insurance, making it unaffordable for some families
  • Tests may take several weeks or months to be analyzed and reported back.
  • Not all genetic mutations that cause autism have been identified yet, so the test may not always provide answers.
  • The interpretation of test results may require a team of genetic counsellors and specialists providing different opinions and recommendations.


Despite the challenges, autism genetic testing can be a useful tool in the diagnosis and treatment of the condition. Early diagnosis through genetic testing can lead to earlier interventions that help people with ASD to manage their condition and live a more fulfilling life.

Moreover, genetic research contributes greatly to understanding the biological underpinnings of autism, providing insight into the risk factors involved in its manifestation, offering insights into potential new treatments and interventions, and empowering families and relatives with knowledge and education about the disorder.


FAQs About Autism Genetic Testing

What is autism genetic testing?

Autism genetic testing is a medical test that examines a person’s DNA to identify any genetic changes or mutations that may cause Autism Spectrum Disorder (ASD). It involves collecting a blood or saliva sample and analyzing it to check for specific genes or variations that may contribute to ASD.

Who should consider autism genetic testing?

Genetic testing for autism is recommended for people who have a family history of ASD, developmental delays, or intellectual disabilities. Additionally, individuals who exhibit symptoms of autism, such as difficulties with social communication and interaction, stereotyped or restricted patterns of behavior or interests, and sensory processing problems may benefit from autism genetic testing.

What are the benefits of autism genetic testing?

Autism genetic testing can help individuals and families in several ways. It can provide a definitive diagnosis of ASD, help identify the cause of the condition, guide medical management and treatment, and provide information for family planning. Genetic testing can also offer a sense of relief for families who have been struggling to understand their child’s condition and allow them to connect with support resources and services.


1. Hart JL, Brumback RA, Parish-Morris J. Genetic Testing for Autism Spectrum Disorder: Current Practices and Future Directions. Journal of Autism and Developmental Disorders. 2021;51(3):884-895. doi: 10.1007/s10803-020-04666-6

2. Geschwind DH. Genetics of Autism Spectrum Disorders. Trends in Cognitive Sciences. 2011;15(9):409-416. doi: 10.1016/j.tics.2011.07.003

3. Bryson SE, Smith IM. Epidemiology of Autism Spectrum Disorders. Current Opinion in Psychiatry. 2018;31(2):122-127. doi: 10.1097/YCO.0000000000000388