Autism Partnership Program
Through our partnership with Jaguar Gene Therapy, eligible pediatric and adult patients with suspected SHANK3-related autism spectrum disorder can receive extra financial support for genetic testing.
For eligible patients, should insurance be denied or a patient be uninsured, testing will be covered. This helps more patients with autism access the comprehensive genetic tests they deserve.
Access to genetic testing is often limited by insurance coverage and cost. Through this program, your eligible patients can receive guideline-backed exome testing with financial support from Jaguar Gene Therapy.
No out-of-pocket costs for patients who are uninsured or denied coverage
Comprehensive exome testing
Together, we can help more families find answers and advance the understanding of autism spectrum disorder.
Patients must meet all of the following criteria:
Additionally, patients must meet at least 5 from at least 2 of the below groups
Neurology/neuropsychiatric
Language/communication
Sensory/sensory perception
Dysmorphic features/musculoskeletal
Motor
GI/urinary system dysfunction
Select the partnership code ESAS3
Confirm your patients’ eligibility
Follow the prompts and enter in the appropriate information
Place your order and we’ll follow up when your results are ready
Please note: if exome results are non-diagnostic GeneDx will reach out to offer genome testing completely covered by Jaguar Gene Therapy
All insurance types are accepted. Commercial plans are billed first, and if denied, Jaguar covers the full cost. If a proband receives a non-diagnostic result, whole genome sequencing is offered at no cost and fully covered by Jaguar.
SHANK3 haploinsufficiency is a genetic cause of SHANK3-related autism spectrum disorder (ASD) and Phelan-McDermid syndrome (PMS). It is characterized by lifelong and severe neurobehavioral, developmental, motor, and cognitive impairments.1
Patients may initially receive clinical diagnoses of autism spectrum disorder (ASD), intellectual disability (ID), developmental delay, or a psychiatric disorder before genetic testing identifies the underlying etiology.1
A diagnosis of PMS is established when genetic testing confirms a loss-of-function variant or deletion in the SHANK3 gene.2
Genetic studies indicate that SHANK3 pathogenic variants occur in approximately 0.5%–0.69% of individuals with ASD. In those with ASD and moderate to profound intellectual disability, the prevalence increases to about 2.1%.3-4
Despite published guidelines recommending genetic evaluation for patients with ASD, SHANK3 haploinsufficiency remains largely undiagnosed because genetic testing is not routinely pursued in many clinical settings.5-7
Updated 2023 consensus clinical guidelines on managing PMS patients highlight multidisciplinary care across genetics, neurology, neurodevelopment, gastroenterology, primary care, physiatry, and other specialties.8
References: 1. Costales JL, Kolevzon A. Phelan–McDermid Syndrome and SHANK3: Implications for Treatment. Neurotherapeutics. 2015;12(3):620–630. doi:10.1007/s13311-015-0352-z. 2. Kolevzon A et al. Phelan-McDermid syndrome: A review of the literature and practice parameters for medical assessment and monitoring. J Neurodev Disord. 2014;6(1). doi:10.1186/1866-1955-6-39. 3. Betancur C, Buxbaum JD. SHANK3 haploinsufficiency: a “common” but underdiagnosed cause of autism spectrum disorders. Mol Autism. 2013;4(1):17. doi:10.1186/2040-2392-4-17. 4. Leblond CS et al. Meta-analysis of SHANK mutations in autism spectrum disorders: A gradient of severity in cognitive impairments. PLoS Genet. 2014;10(9):e1004580. doi:10.1371/journal.pgen.1004580. 5. Shen Y et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010;125(4). doi:10.1542/peds.2009-1684. 6. Manickam K et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability. Genet Med. 2021;23(11):2029–2037. doi:10.1038/s41436-021-01242-6. 7. Rodan LH et al. Genetic evaluation of the child with intellectual disability or global developmental delay: Clinical report. Pediatrics. 2025;156(1):e2025072219. doi:10.1542/peds.2025-072219 8. Kolevzon A et al. Phelan-McDermid syndrome: Updated consensus clinical guidelines. J Neurodev Disord. 2023.
This program helps accelerate the development of new autism therapeutics. Our partner, Jaguar Gene Therapy, receives only de-identified patient data, such as reportable variants from patients tested through the program, and contact information for the providers who order testing.
GeneDx will never share any personally identifiable patient information or raw sequencing data with biopharma industry partners. To learn more, please see our full privacy policy here.
