Table 4.

Additional comments from referring providers

Age (years)	Results	Gene	Primary reason for referral	Provider comments
1 month	Uncertain	HCN4	Cardiovascular	“Parents were very relieved the results are likely de novo and no apparent ID associated with mutation found. Further testing for a deletion or duplication of the gene.”
2	Positive	ACTG2	Multiple congenital anomalies	“The patient is now a candidate for a transplant.”
1	Positive	MECP2	Neurodevelopmental	“Allowed for palliative care and end‐of‐life decisions to be discussed more thoroughly.”
2	Positive	SLC16A2	Neurodevelopmental	“This test stopped very aggressive diagnostic efforts, qualified him for a clinical trial, and there are other treatments that he is now receiving. The parents also benefited from knowing the mechanism of inheritance.”
1	Positive	GABBR2	Neurodevelopmental	“We are pleased to have additional information that will help us in the future for care.”
2	Positive	SCN8A	Neurodevelopmental	“Neurology may recommend medication changes.”
3	Positive	SLC2A1	Neurodevelopmental	“New dietary recommendations. We will start her on ketogenic diet to reduce/control seizures and the movement disorder.”
1 month	Likely positive	SOX10	Neuromuscular	“The test provided clarification of prognosis expectations and helped to make decisions regarding care and long term.”
11	Uncertain	SETBP1	Seizures	“This test result ended the patient's diagnostic odyssey. There is no longer a need for unnecessary tests and the family can finally move on.”
4	Negative	N/A	Autism	“The result affected the diagnostic direction.”
27	Negative	N/A	Cancer susceptibility	“We will now pursue research testing.”
17	Negative	N/A	Immune	“The results helped to suggest that the symptoms are more likely viral than genetic or hereditary.”
16	Negative	N/A	Intellectual disability	“The patient is now eligible to enroll in the CURE's Epilepsy Genetics Initiative.”
11	Negative	N/A	Neurodevelopmental	“The results help direct the ordering of additional tests to evaluate variants (e.g. enzyme assay for MANBA and transferrin testing for COG1‐CDG).”
41	Negative	N/A	Skeletal	“The report allowed for the discontinuation of specialized diet and enabled reassurance to a 1st degree relative concerned about a genetic disorder.”

The MANBA gene codes for the beta‐mannosidase metabolizing enzyme.

COG1‐CDG; COG1 gene‐related congenital disorders of glycosylation.