Molecular diagnostics Practice Questions
21 free Molecular diagnostics practice questions for the USMLE Step 1, each with the correct answer and a detailed explanation. Open any question below, or take the full set as an interactive quiz.
Questions
21 questions
All Molecular diagnostics questions
- Q1. Which molecular diagnostic technique involves exponential amplification of a specific DNA segment using repeated heating and cooling cycles?
- Q2. Which variant of PCR allows real-time monitoring of DNA amplification and quantification of DNA or RNA in a sample?
- Q3. Which diagnostic method is most appropriate for detecting a chromosomal deletion or duplication across the genome at high resolution?
- Q4. Which molecular diagnostic technique is best for detecting single-nucleotide variants or small insertions/deletions in a known gene?
- Q5. What advantage does multiplex PCR offer over single-target PCR in a diagnostic lab?
- Q6. In molecular diagnostics, which technique is commonly used to detect and quantify specific proteins (rather than nucleic acids)?
- Q7. Which statement correctly distinguishes molecular genetic tests from cytogenetic tests?
- Q8. Why is PCR-based molecular diagnostics often favored for detecting infectious agents compared to traditional culture methods?
- Q9. Which molecular diagnostic method would be optimal for assessing global gene expression patterns in a tumor sample?
- Q10. Which of the following is a limitation of conventional PCR that led to development of Real-Time PCR (qPCR)?
- Q11. Which molecular diagnostic technique relies on fluorescently labeled probes that are cleaved by polymerase exonuclease activity during PCR to increase specific…
- Q12. Which molecular diagnostic approach would best detect a small insertion or deletion (indel) mutation present at low allele frequency in a mixed cell population?
- Q13. Which technique would you choose to detect a known chromosomal translocation in leukemia cells?
- Q14. What is a key advantage of isothermal amplification (e.g., LAMP or RPA) over conventional PCR in resource-limited settings?
- Q15. Which molecular diagnostic technique is most suitable for confirming presence of a viral RNA pathogen in a patient sample?
- Q16. In molecular diagnostics, what does high analytical sensitivity mean?
- Q17. Which molecular diagnostic method can provide information about both gene expression (mRNA levels) and possible gene mutations simultaneously in large number o…
- Q18. What is the primary purpose of molecular diagnostics in oncology (cancer care)?
- Q19. Which of the following is a disadvantage of molecular diagnostic techniques compared to traditional culture or immunological assays?
- Q20. Which method can be used to detect a known deletion of several exons in a gene (copy-number variation) when sequencing fails to reliably quantify copy number?
- Q21. Which approach is best suited for rapidly typing multiple pathogens or resistance genes in a single patient sample?