Neurogenetics Curriculum
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Diagnostic Yields Across Phenotypes
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Question 1
A 6-month-old with severe developmental delay, seizures, and no family history presents for genetic evaluation. Both parents are available for testing. Which testing strategy is best supported by current evidence?
A
Single-gene testing for the most common epilepsy genes, then a gene panel if those return negative
B
Chromosomal microarray first, as the ACMG first-tier test for neurodevelopmental disorders, reflexing to exome if it is non-diagnostic
C
Trio exome or genome sequencing (proband + both parents) — roughly doubles the odds of a diagnosis for de novo conditions
D
An epilepsy gene panel with CNV calling, since panels have higher per-gene coverage than exome and include the genes relevant at this age
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