Molecular diagnostics · USMLE Step 1

Which diagnostic method is most appropriate for detecting a chromosomal deletion or duplication across the genome at high resolution?

  1. Conventional karyotyping
  2. DNA sequencing of a single gene
  3. Array comparative genomic hybridization (aCGH)
  4. Western blotting of protein extracts
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Correct answer: Array comparative genomic hybridization (aCGH)

Array comparative genomic hybridization (aCGH) compares patient DNA to reference DNA at many loci across the genome and detects copy number changes (deletions or duplications) with much higher resolution than conventional karyotyping.

Difficulty: Medium Question 3 of 21

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