ExomeDx
GeneDx ExomeDx whole exome sequencing for suspected Phelan-McDermid syndrome / SHANK3-related autism, sponsored by Jaguar Gene Therapy — with genome sequencing if the exome is non-diagnostic. Billed to insurance; Jaguar covers Medicare/Medicare Advantage and when commercial coverage is unavailable.
Accessed through the Autism Answers: SHANK3 Inform Partnership Program Sponsored Testing Program•Sponsored by Jaguar Gene Therapy•Performed by GeneDx
Designed to support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
The Autism Answers: SHANK3 Inform Partnership Program, supported by Jaguar Gene Therapy and performed by GeneDx, provides ExomeDx whole exome sequencing (proband, with duo/trio options) for U.S. patients with clinical suspicion of Phelan-McDermid syndrome or SHANK3-related ASD. The exome is analyzed with SHANK3 as the gene of primary interest, including deletion/duplication analysis, while retaining the diagnostic breadth to identify alternative genetic etiologies for developmental delay or ASD. Testing is billed to insurance first; Jaguar Gene Therapy covers the cost of exome testing for patients with Medicare, Medicare Advantage, or when commercial coverage is unavailable, reducing financial barriers to molecular diagnosis. If the proband exome is non-diagnostic, genome sequencing may be offered.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- Has not had prior genetic testing performed by a clinical laboratory that resulted in a confirmed diagnosis of Phelan-McDermid syndrome (PMS; SHANK3 haploinsufficiency)
- Moderate-to-severe developmental delay, intellectual disability (ID), autism spectrum disorder (ASD), or autistic-like behavior with clinical suspicion of PMS
- Patient resides in the United States
- Patient is not a hospital inpatient
- At least 5 of the following criteria, from at least 2 of the groups below:
- Neurology, Neuropsychiatric
- Psychiatric manifestations or episodes
- Seizures
- Regression
- Sleep disturbances
- Catatonia
- Sensory, Sensory Perception
- Decreased perception of pain (including self-injury)
- Decreased response to auditory or visual stimuli
- Decreased perspiration/overheating
- Pica disorder (and/or mouthing, chewing, or teeth grinding)
- Motor
- Delayed motor milestones (rolling over, sitting, crawling, walking)
- Gross and fine motor impairments
- Gait abnormalities
- Language, Communication
- Delayed or absent speech
- Speech apraxia
- Dysmorphic Features, Musculoskeletal
- Dysplastic fingernails or toenails, long eyelashes, large or fleshy hands
- Marked hypotonia
- GI, Urinary System Dysfunction
- Bladder or bowel incontinence
- Gastroesophageal reflux (including difficulty swallowing)
- Dysmotility (including constipation)
Workflow
How to use this program
- 1
Identify eligible patients
Consider patients with suspected or confirmed ARVC, concerning arrhythmias, or relevant family history.
- 2
Order through your usual workflow
Use your standard ordering process for submitting tests to Example Genetics Lab (portal or existing workflows).
- 3
Integrate results into management
Use results to refine diagnosis, guide cascade testing, and inform monitoring and treatment decisions.
- 4
Plan follow-up and cascade testing
Determine downstream actions including surveillance, family member testing, and long-term management plans.
Billing overview
Program billing
For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.
Quality & privacy
Laboratory quality & data handling
Testing is performed by GeneDx, a CLIA-certified laboratory (CLIA CLIA 12D3456789). Your sample is processed using validated methods and quality controls to support reliable genetic results.
Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.
FAQ
Frequently asked questions
Which patients are appropriate for the SHANK3 Inform Phelan-McDermid syndrome testing program?
The Autism Answers: SHANK3 Inform program is designed for U.S. patients with clinical suspicion of Phelan-McDermid syndrome or SHANK3-related autism spectrum disorder who meet the program's eligibility criteria. A program-specific eligibility and ordering guide is available from GeneDx that details the clinical criteria required. Patients must meet criteria across multiple clinical domains as outlined in the program documentation.
What does the SHANK3 Inform program's whole exome sequencing test cover?
The program utilizes GeneDx ExomeDx whole exome sequencing with deletion/duplication analysis. SHANK3 is analyzed as the gene of primary interest given the indication of suspected Phelan-McDermid syndrome, but because the full exome (approximately 20,000 protein-coding genes) is sequenced, other genetic etiologies for developmental delay or ASD can be identified. Proband-only, duo, and trio configurations are available. If the proband exome is non-diagnostic, genome sequencing can be offered as a next step.
How is billing handled for the SHANK3 Inform Phelan-McDermid syndrome exome test?
The test is billed to the patient's insurance first. Jaguar Gene Therapy covers the cost of exome testing for patients with Medicare or Medicare Advantage and when commercial insurance coverage is unavailable, so financial barriers are minimized. For claims approved by commercial insurance, the test is processed under the patient's plan as usual; direct any cost-sharing questions to the patient's insurance or your billing team. Ordering through the SHANK3 Inform program carries no purchase or prescribing obligation.
How do I order testing through the SHANK3 Inform Partnership Program?
The program requires use of a program-specific test requisition form (TRF) available from GeneDx. The TRF and an eligibility and ordering guide can be downloaded from the GeneDx SHANK3 Inform program page. Ordering through the program carries no purchase or prescribing obligation to Jaguar Gene Therapy or GeneDx.
Is genetic counseling support available for SHANK3 Inform Phelan-McDermid syndrome cases?
GeneDx provides genetic counseling support as part of its clinical services. Counselors can assist with pre-test counseling, variant interpretation discussion, and post-test guidance for patients and families. Contact GeneDx directly for details on accessing genetic counseling resources for cases ordered through the SHANK3 Inform program.
Does ordering through the SHANK3 Inform program create any prescribing obligation to the sponsor?
No. Ordering whole exome sequencing through the Autism Answers: SHANK3 Inform Partnership Program, sponsored by Jaguar Gene Therapy, carries no purchase or prescribing obligation. The program is designed to support molecular diagnosis of Phelan-McDermid syndrome and related conditions, and the sponsor's coverage of testing costs when insurance is unavailable does not obligate the provider or patient in any way.
Which patients are eligible for Autism Answers: SHANK3 Inform Partnership Program Phelan-McDermid Syndrome genetic testing?
Patients may qualify for Autism Answers: SHANK3 Inform Partnership Program if they meet the program's eligibility criteria:
- No prior genetic testing by a clinical laboratory that resulted in a confirmed diagnosis of Phelan-McDermid syndrome (genetically confirmed SHANK3 haploinsufficiency)
- Presents with moderate-to-severe developmental delay, intellectual disability, autism spectrum disorder, or autistic-like behavior, with clinical suspicion of PMS
- Resides in the United States
- Plus, at least 5 features from at least 2 of the following categories:
- Neurology / neuropsychiatric
- Psychiatric manifestations or episodes
- Seizures
- Regression
- Sleep disturbances
- Catatonia
- Dysmorphic features / musculoskeletal
- Dysplastic finger- or toenails, long eyelashes, large or fleshy hands
- Marked hypotonia
- Language / communication
- Delayed or absent speech
- Speech apraxia
- Motor
- Delayed motor milestones (rolling over, sitting, crawling, walking)
- Gross and fine motor impairments
- Gait abnormalities
- Sensory / sensory perception
- Decreased perception of pain (including self-injury)
- Decreased response to auditory or visual stimuli
- Decreased perspiration, overheating
- Pica (and/or mouthing, chewing, or teeth grinding)
- GI / urinary system dysfunction
- Bladder or bowel incontinence
- Gastroesophageal reflux (including difficulty swallowing)
- Dysmotility (including constipation)
- Neurology / neuropsychiatric
See an issue with this program?