Lineagen Announces Identification of 39 Genetic Variants as Novel Risk Factors for Developing Autism Spectrum Disorder (ASD)

February 26, 2014

Unique research approach in ASD may lead to more powerful genetic diagnostic tests. Findings appear in the current issue of Molecular Autism.

SALT LAKE CITY, Feb. 26, 2014 -- Lineagen, Inc., an innovative molecular diagnostics company focused on complex, genetically linked disorders, announced today the publication of the first major study in autism spectrum disorder (ASD) to apply a unique research approach that identified 39 variants in 36 genes, which may confer a genetic risk of developing ASD. This approach – haplotype sharing in multi-generational families from the Utah Population Database (UPDB) – opens the door to more efficient elucidation of ASD gene risk variants and more powerful genetic diagnostic testing to assist in the clinical evaluation of individuals with ASD and related disorders of childhood development. Researchers affiliated with The Children's Hospital of Philadelphia (CHOP), the University of Utah (Utah), Golden Helix, Inc., and Lineagen participated in the study, which was designed to detect genetic variants that confer risk of developing ASD in large multi-generational families, and then testing those discoveries in a broader population of unrelated individuals with ASD. The results showed that 11 of the familial gene variants also confer a genetic risk of developing ASD in the general population.

Importantly, three genetic variants discovered by Lineagen may be causal, as they were not detected in gene sequences from more than 10,000 individuals without a diagnosis of ASD. One of these variants was identified in the RAB11FIP5 gene that encodes a brain protein involved with synaptic glutamate receptor recycling, among other functions. Two separate variants were identified in the AKAP9 gene, a member of a larger gene family that independent studies have shown to be integral to many biological pathways implicated in the development of ASD. Results from Lineagen's study were published in the current issue of Molecular Autism; a copy of the article can be accessed at

Lineagen has incorporated these newly-discovered genetic variants into the currently available FirstStepDx PLUS chromosomal microarray, as well as in NextStepDx PLUS, the Company's next generation sequence-based test that is soon to be offered as a reflex test to FirstStepDx PLUS. FirstStepDx PLUS and NextStepDx PLUS both combine highly advanced genetic testing with non-invasive DNA sample collection (a cheek swab), fully integrated genetic counseling, and reimbursement assistance to accelerate and enhance the diagnostic evaluation of individuals with ASD, developmental delay, intellectual disability, and multiple congenital anomalies, leading to better clinical management for these individuals by their physicians.

Dietrich Stephan, Ph.D., Professor and Chairman of the Department of Human Genetics at the University of Pittsburgh and UPMC stated, "The study is important to improve autism genetic diagnostic testing and thus its importance to improving clinical outcomes for patients in this devastating disorder and reducing the massive lifetime costs to the system. The authors used a sophisticated combination of unique large families with autism, often four generations or more, and sophisticated genomics discovery strategies to identify new autism susceptibility genes. Remarkably, three of the variants, including variants in RAB11FIP5, have never been seen before and thus are likely to be found to be causal in these and other patients. This scientific approach and the output break new ground for the field." Dr. Stephan was the primary author on the New England Journal of Medicine article identifying one of the first and most widely implicated autism-susceptibility genes, CNTNAP2.

Lineagen's Chief Executive Officer Michael S. Paul, Ph.D., said, "Publication of these new results underscores the continued value of Utah's unique genetic resources for enabling the discovery and validation of genetic factors useful in the development of clinical genetic tests, and the potential impact of the collaboration established among the great research teams at Utah, CHOP, and Golden Helix. I am pleased to say that Lineagen has already translated this world-class research into its commercial genetic testing application, FirstStepDx PLUS. By incorporating the identified genetic variants into both FirstStepDx PLUS and NextStepDx PLUS, Lineagen continues to outpace comparator tests in offering the most clinically actionable information per test result to assist in the evaluation and clinical management of patients with ASD and related disorders of childhood development."

About FirstStepDx PLUS

Lineagen's FirstStepDx PLUS and related autism-risk screening services ( have been developed with the specific intention of helping physicians, patients, and families navigate the diagnostic "odyssey" of individuals with ASD and other disorders of childhood development. Chromosomal microarray (CMA) genetic testing is medically recommended for children with ASD so that a genetic cause in these children can be identified earlier and more efficiently. The FirstStepDx PLUS test includes genetic counseling, the most advanced, customized CMA clinically available, and a detailed, personalized report created specifically for each individual tested. FirstStepDx PLUS is specifically designed to help parents, physicians, and other healthcare providers significantly shorten the time to clinical action, allowing access to proven clinical management and treatment approaches as early as possible. The customized and proprietary CMA platform incorporated into FirstStepDx PLUS was developed in collaboration with Affymetrix under the Powered by Affymetrix program. Further, Lineagen's FirstStepDx PLUS incorporates novel validated copy number genetic variants featured in another publication from the same 9,000-person genetic study by researchers affiliated with The Children's Hospital of Philadelphia (CHOP), the University of Utah, Golden Helix, Inc, and Lineagen (

The FirstStepDx PLUS genetic test was the first such test to be available as a fast and painless cheek swab (FirstStepDx PLUS Buccal), eliminating the need for a blood draw. For more information about FirstStepDx PLUS, please call Lineagen at 888-888-OPEN (888-888-6736) or visit

About Lineagen

Based in Salt Lake City, Utah, 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. Our first commercial offering, FirstStepDx PLUS, provides physicians with a fully integrated genetic testing, counseling, and developmental screening service to aid in the diagnostic evaluation of individuals with ASD or other forms of developmental delay. In addition to our deep commitment to ASD and developmental delay, we have ongoing scientific programs in the areas of multiple sclerosis (MS) and chronic obstructive pulmonary disease (COPD). For additional information, please visit

Lineagen contact
Dr. Michael Paul

Burns McClellan, on behalf of Lineagen
Justin Jackson