Lineagen Launches FirstStepDx Genetic Testing and Counseling Service to Help Physicians Diagnose Autism and Developmental Delay Earlier

  • FirstStepDx genetic testing and counseling service empowers physicians with tools to enhance and accelerate the diagnostic evaluation of children with indications of autism spectrum disorders (ASD) or developmental delay (DD)
  • ASD is the fastest-growing neurodevelopmental disability in the U.S., affecting approximately 1 in 110 children, including up to 1 in 58 boys
  • FirstStepDx employs advanced standard of care technology combined with genetic counseling and consultative services
  • Families describe ‘life-changing’ impact of FirstStepDx

SALT LAKE CITY--()--Lineagen ( announces the launch of its FirstStepDx integrated genetic testing and counseling service to assist pediatricians and family physicians with the earlier, more accurate diagnostic evaluation of autism spectrum disorders (ASD) and developmental delay (DD). FirstStepDx testing identifies certain genetic factors associated with ASD and DD.

Early diagnostic evaluation of children with ASD is critical so that they can receive the earliest possible proactive intervention. Recent clinical data has shown that behavioral intervention therapy is effective in treating the symptoms of ASD in children as young as 18 months of age. The average age of diagnosis in the United States is currently between 4 and 5 years old, resulting in the loss of valuable time for treating these children.

FirstStepDx integrates the most advanced and comprehensive genetic testing technology with pre- and post testing-consultation, provided by Lineagen’s certified genetic counselors. The American College of Medical Genetics now recommends the technology used in FirstStepDx’s genetic testing service as standard of care for apparent DD, ASD, and other conditions of childhood development.

“We created FirstStepDx to help community-based pediatricians and families confront the often overwhelming challenges associated with the evaluation of children with autism spectrum disorders and apparent developmental delay. Our service is focused entirely on shortening their diagnostic odyssey,” said Michael Paul, Ph.D., CEO of Lineagen. “FirstStepDx is at the forefront of a new personalized approach to healthcare delivery and is the first specialist service that empowers community pediatricians with recommended standard of care genetic testing and best-in-class counseling service.”

The diagnosis of ASD and other conditions of childhood development can be slow, expensive, and frustrating for all involved. FirstStepDx addresses the backlogs and long waiting periods often associated with the evaluation of developmental disorders, by providing to the community physician the innovative molecular diagnostic tests and genetic counseling services that have been previously limited to specialist urban medical centers.

Parents are often desperate to find an answer or a reason for their child's unique developmental problems,” said Dr. Miguel Knochel, FAAP of the Payson Pediatrics Canyon View Medical Group in Utah. “I have used FirstStepDx with a number of patients where ASD is suspected or confirmed. In all of these cases, Lineagen’s service has proven to be extremely useful in the evaluation process. The FirstStepDx genetic test result can be the final piece of the puzzle, helping me with the clinical management of my patients. Based on these experiences, I will offer FirstStepDx right away to all my patients with potential clinical features of ASD or other developmental delays, especially for children with distinctive facial features, minor anomalies or a family history of ASD.”

“Lineagen treats us as family and has helped us throughout this process and experience,” said Brigitte Kracl of Payson, Utah, the mother of a child with ASD-like symptoms whose diagnosis of Angelman syndrome was confirmed by FirstStepDx. “I can ask them anything and they help me to understand all I need to know. Lineagen changed our lives. We can now give our son the help and support he deserves and needs.”

The Critical Importance of Diagnosing Autism Earlier

Autism spectrum disorder, the fastest-growing developmental disorder in the United States, currently affects an estimated 1 in every 110 children, including up to 1 in 58 boys. A growing body of research, including recent major studies such as “The Early Start Denver Model” in Pediatrics, indicates that early diagnosis coupled with intensive behavioral intervention can make a profound positive difference to the lives of children with ASD and their families. Behavioral therapy has been shown to improve IQ, language and social skills, and has the ability to “mainstream” children into standard school systems.

Key Scientific Collaborations

Physicians ordering FirstStepDx also benefit from Lineagen’s on-going research into genetic factors related to ASD. Close scientific collaboration with two global leaders in genetic research is helping to identify new genetic markers for ASD. The first, the University of Utah, has identified more genes causative for diseases than any other institution in the world, and was one the early participating organizations in the Human Genome Project. The second collaborator, The Children’s Hospital of Philadelphia (CHOP), is widely recognized as one of the world’s preeminent pediatric institutes and a leader in ASD research. Lineagen is working closely with both partners to commercialize novel genetic markers associated with ASD that will in turn increase the diagnostic yield of the FirstStepDx genetic test.

Ordering FirstStepDx

The full complement of FirstStepDx services is currently provided through physicians in California, Colorado, Connecticut, Oklahoma and Utah. Throughout 2011, Lineagen plans to make FirstStepDx available to physicians in a growing number of locations throughout the United States. For more information and support please visit or call 1-888-888-OPEN (6736).

Online Press Room

The Lineagen online press room is available at, and includes downloadable press presentation, company and product information, and high-resolution images.

About Lineagen

Lineagen, based in Salt Lake City, sells innovative diagnostic and consultative healthcare services for autism spectrum disorders (ASD) to physicians, combining high-value genetic testing with comprehensive, personalized consultative services.

Lineagen is strongly differentiated through its focus on specific complex diseases and disorders with demonstrated genetic association: ASD, multiple sclerosis (MS) and chronic obstructive pulmonary disorder (COPD). This specialization enables the company to combine powerful insight into clinical diagnostic pathways with strong proprietary and in-licensed research data, resulting in earlier, more personalized intervention and management for conditions where genetic susceptibility matters. Lineagen addresses a large, unmet, and growing need for expert genetic testing and counseling services designed to support community physicians and families.


Lineagen Public Relations
David Olsen, 801-461-9786

Release Summary

Lineagen launches FirstStepDx genetic testing and counseling service to help physicians diagnose autism and developmental delay earlier.


Lineagen Public Relations
David Olsen, 801-461-9786