Autism spectrum disorder (ASD) is a neurological condition that affects a person’s behaviour, ability to communicate, and social interaction skills. People with autism spectrum disorder understand and interact with the world differently than their peers.

Autism is primarily a genetic condition: Most of the risk for autism comes from genes. Mutations in more than 100 genes are known to lead to the condition. There are four types of tests that can detect these mutations, as well as structural variations that may lead to autism. As researchers learn more about the genetics of autism, the tests have become more informative: More of the mutations they find have ties to autism and known health consequences.

A genetic test cannot diagnose or detect autism. That’s because myriad genes, along with environmental factors, may underlie the condition. Roughly 100 genes have clear ties to autism, but no single gene leads to autism every time it is mutated.

Genetic tests are not intended to diagnose autism—no known mutation leads to the condition every time — but their results can substantially alter the course of treatments or prevention. Some mutations reveal that the carrier is prone to medical conditions such as seizures, obesity, or kidney problems, for example. The information can also connect people who share a mutation; some of these individuals and their families have even fostered research by discovering shared traits. And knowing the specific risks associated with a mutation helps families make decisions about having more children.

We are here for you.

Dr. Chayim Schell-Apacik is a specialist in clinical genetics with over three decades of experience in supporting patients. We offer individualised evaluations, genetic consultation, and testing, with the goal to providing you with genetic information that presents choices and minimises uncertainty, empowering you to make decisions that are most beneficial for you. Please contact us, to find out more.

What is genetic testing?

Genetic testing – sometimes called genomic testing, finds changes in the genetic material that can cause health problems. It is mainly used to diagnose rare and inherited health conditions and some cancers.
You may be offered a genetic test because your doctor thinks

• you or your child might have a health condition caused by a change in the genetic material involving one or more genes or certain chromosomes.
• someone in your family has a health condition that is caused by changes in the genetic material involving one or more genes, or certain chromosomes.
• some of your close relatives have had a particular type of cancer that could be inherited.

At Schell Genetics, we are here to assist you in this process. Please don’t hesitate to contact us.

Learn more about other RARE DISEASES or GENETIC DISORDERS