FRCPath Haem Part 1 MCQ-Gen Haem 250

A 2yr-old with chronic steatorrhea, skeletal dysplasia and recurrent infections is found to have neutropenia. Which diagnostic test is most helpful in this pt?

• Chromosomal breakage assay
• Telomere length measurement
• Germline sequencing of GATA2
• Serum trypsinogen

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