A patient having a FirstStep DX Plus cheek swab

Changing Autism Spectrum Disorder’s (ASD) Diagnostic Odyssey

While never confirmed, it has been suspected that such leading figures as Michelangelo, Andy Warhol, Mozart, Albert Einstein, and Isaac Newton each had a type of autism spectrum disorder (ASD).[1] ASD is an umbrella term for a range of neurodevelopmental disorders that impair an individual’s ability to communicate and interact with others. ASD tends to encompass diagnoses of autism, Asperger syndrome, a range of childhood disintegrative disorders, and various pervasive development disorders.

According to the Centers for Disease Control and Prevention (CDC), ASD affects approximately 1 in 68 children.sup>[2] Parents with one child with ASD will have a 2 to 18 percent chance of having a second child with the condition. In the case of identical twins where one has been diagnosed with ASD, the other will be affected roughly 36 to 95 percent of the time.sup>[3] Nearly half (46 percent) of ASD children are reported to have average to above average intellectual ability.

A stack of FirstStepDxPLUS® kits

Concurrent Conditions

While ASD has long been characterized by communication impairments, in many cases children with the disorder will also have concurrent conditions such as epilepsy, cardiac anomalies, problems with movement and balance, and/or learning difficulties. Myriad studies have shown that these conditions, in conjunction with ASD, often have an underlying genetic cause. “This link is important,” explains Michael Paul, Ph.D., CEO of U-spinout Lineagen. “Knowing the genetic basis changes treatment, often dramatically. Due to recent advances in genetic analysis, we can now identify potentially life-threatening conditions early on through genetic testing and then treat them. This is important because identifying a condition early leads to better management and better outcomes.”


Lineagen was born from the research of Distinguished Human Genetics Professor Mark Leppert, Ph.D., at the U. The company has been at the forefront of accessible genetic testing for ASD and other forms of developmental delay since its founding in 2005. Lineagen’s mission is to accelerate and enhance the diagnostic evaluation of medical conditions so that the best possible outcomes can be achieved for patients and their families. Their primary product, FirstStepDxPLUS®, is a customized genetic testing service for individuals with ASD and other developmental disorders. This non-invasive test can identify underlying genetic conditions that provide physicians and families with necessary information for more educated decision-making regarding treatment.

How FirstStepDxPLUS® Works

FirstStepDxPLUS® utilizes chromosomal microarray analysis (CMA), a technique that screens a patient’s entire genome looking for “blips” or irregularities within. The irregularities that CMA searches for are usually duplicated or deleted chromosomal segments, known as copy number variants (CNVs), associated with ASD and other developmental disorders. According to Lineagen, CMA is a vital first genetic test after someone has been diagnosed with ASD because it is roughly three times more effective at spotting genetic variants than other clinical methods. The company’s customized CMA platform is also unique in that it is the only test on the market that includes additional technology to detect genetic variants shown to be associated with autism spectrum disorder (ASD), including the most recently identified ones.

Michael Paul, CEO, Lineagen

Families who use the FirstStepDxPLUS® test are often delighted to learn that needles are never involved. Lineagen solicited feedback from its customers and learned that blood draws and injections are often traumatic affairs for their children with autism. Because of this feedback the company uses a cheek swab rather than a needle to gather DNA samples. “It didn’t hurt; it only took a couple of minutes,” explains Angela Guerin, mother of a son with autism. “It was so easy to do. It doesn’t matter what your diagnosis is, whether it’s a yes or a no, or a positive or a negative, knowing an answer is helpful.”

After Lineagen receives the cheek swab sample from the family the results are provided to the physician in three to four weeks. “Our genetic counselors then interpret the results, package them into an easy-to-understand report with both a physician and family section, and send it to the physician to share with the family,” explains Paul. If, for example, a test for a two-year-old child identifies a mutation associated with Angelman syndrome (a serious disorder usually associated with a variant in the maternally inherited copy of chromosome 15), that child’s physician, as well as the family, will be able to properly prepare for and treat the likely oncoming of seizures later in that child’s life.

FirstStepDxPLUS® is currently reimbursed by most insurance companies and can be ordered by a physician by contacting Lineagen. Approximately 3,000 people have been tested thus far and the company has grown over 200 percent year over year. Roughly $12.2 million in new capital has been raised recently and Paul and his team are adamant that the same vision that catapulted them into forming Lineagen—a sincere desire to help children with autism and their families—is alive and well today and the impetus for future growth.

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[1] Steven G. Krant, A Mathematician Comes of Age (Washington D.C.: Mathematical Association of America 2012), 73.

[2] “Autism Spectrum Disorder (ASD),” Centers for Disease Control and Prevention, accessed September 14, 2015,

[3] Carolyn Conway Madding, Michelle Powers-Lundvall and Ursula Jarrin, “The Influence of Autism Spectrum Disorders on Family Life,” Department of Communicative Disorders, California State University (CSULB), accessed September 14, 2015,