Molecular diagnostics · USMLE Step 1

Which molecular diagnostic technique is best for detecting single-nucleotide variants or small insertions/deletions in a known gene?

  1. Multiplex PCR
  2. Sanger DNA sequencing
  3. FISH with chromosomal probes
  4. Protein electrophoresis
Show answer and explanation

Correct answer: Sanger DNA sequencing

Sanger DNA sequencing reads the exact nucleotide order of DNA and can detect single-nucleotide variants or small INDELs in a gene, making it the gold-standard for targeted mutation detection.

Difficulty: Medium Question 4 of 21

Practice all 21 Molecular diagnostics questions

Keep practicing

More Molecular diagnostics questions