NeuroGenetics
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Introduction to Neurogenetics
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Question 1
A 3-year-old boy presents with global developmental delay, no family history, and no distinctive features. Chromosomal microarray and fragile X testing are normal. What is the most appropriate next step?
A
Order a metabolic panel (amino acids, organic acids) and observe for 6 months
B
Exome or genome sequencing — the diagnostic yield is ~30–40% for unsolved developmental delay
C
Karyotype — to detect balanced translocations not visible on microarray
D
No further genetic workup; developmental delay is likely environmental
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