ExomeDx

The Autism Answers: SHANK3 Inform Partnership Program is a sponsored genetic testing program for children and individuals in the U.S. who may have Phelan-McDermid syndrome or SHANK3-related autism spectrum disorder. The program provides whole exome sequencing through GeneDx, which examines roughly 20,000 genes to look for the genetic cause of your child's symptoms. Because the test is so comprehensive, it can also identify other genetic causes of developmental delay or autism if SHANK3 is not involved.

The test is first billed to your insurance as usual. If your insurance denies the claim, or if you are uninsured, the program's sponsor, Jaguar Gene Therapy, covers the cost of exome testing so you are not left with an unexpected bill. If your insurance approves the claim, it is processed under your plan like any other covered service. If you have questions about cost-sharing for an approved claim, your care team can help you understand what to expect.

The program uses whole exome sequencing, which is one of the most comprehensive genetic tests available. Rather than looking at just one gene, it sequences all roughly 20,000 protein-coding genes. The analysis focuses on SHANK3, the gene most associated with Phelan-McDermid syndrome, but because the entire exome is sequenced, the test can also reveal other genetic causes of developmental delay or autism spectrum disorder if PMS is not confirmed.

Yes. Because the Autism Answers: SHANK3 Inform program uses whole exome sequencing, it examines far more than just the SHANK3 gene. If your child's results do not show a SHANK3-related cause, the test may still identify a different genetic explanation for developmental delay or autism spectrum disorder. In some cases, if the exome result is not diagnostic, genome sequencing may also be offered to look even further.

GeneDx offers genetic counseling support as part of its testing services. A genetic counselor can help your family understand what the test results mean and discuss next steps. Talk to your ordering provider or contact GeneDx directly to learn more about genetic counseling resources available to you.

The Autism Answers: SHANK3 Inform program offers whole exome sequencing for the patient (the proband), with options for duo or trio testing that includes one or both parents. Testing parents alongside the child can help the lab more accurately identify which genetic changes are meaningful. Your provider can determine whether duo or trio testing is appropriate for your family.

Patients may qualify for Autism Answers: SHANK3 Inform Partnership Program if they meet the program's eligibility criteria:

• No previous genetic test has confirmed a diagnosis of Phelan-McDermid syndrome (SHANK3 haploinsufficiency)
• The patient has moderate-to-severe developmental delay, intellectual disability, autism spectrum disorder, or autistic-like behavior, and Phelan-McDermid syndrome is suspected
• The patient lives 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)