Pediatric patients will be eligible if they are being referred for a first-time appointment scheduled at least 3 weeks away with a physician at a study-affiliated clinic, are younger than 16 years of age at the time eligibility is determined, and have defined clinical symptoms with unknown etiology that may be due to an underlying genetic condition (see additional file 1). A team of physicians and genetic counselors developed and will regularly discuss the clinical criteria guide for eligibility. When a child’s phenotypic eligibility is unclear, a central study physician will adjudicate. The clinical criteria will help identify patients for whom ES may help determine the cause of their condition, and thereby may impact the management of their medical condition. All eligible pediatric patients will need an eligible primary guardian (usually a parent) defined as: authorized to provide legal consent and sign legal documents for the child, able to complete written surveys in English or Spanish, being 18 years or older, and willing and able to attend the study-related clinic visit and complete all study-related tasks. The term “parent” is used in this article to refer broadly to adult guardians or caregivers of the pediatric patients who have the authority to consent the child to research. Parents of eligible pediatric patients will receive a letter informing them about the study and later receive an enrollment phone call where parent eligibility will be determined, and a formal invitation to the study will be provided.

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