Phelan-McDermid Syndrome

Autism Answers: SHANK3 Inform is a genetic testing program from GeneDx, in partnership with Jaguar Gene Therapy, for U.S. patients with clinical suspicion of Phelan-McDermid syndrome (PMS) or SHANK3-related autism spectrum disorder. Testing uses GeneDx's ExomeDx whole exome sequencing (proband, with duo or trio options); if the proband's exome is non-diagnostic, genome sequencing can be offered. The test is billed to insurance first, and Jaguar covers the cost of exome testing for patients with Medicare or Medicare Advantage and when commercial insurance coverage is unavailable, so cost is less likely to stand in the way of a diagnosis. Because a molecular diagnosis of PMS is defined by SHANK3 haploinsufficiency, the exome (with deletion/duplication analysis) is analyzed with SHANK3 as the gene of primary interest, while still able to identify other genetic causes of developmental delay or ASD.