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Module 3: Molecular Diagnostics: Practice Questions

1. (D1) A 64 year-old man has recently been prescribed clodipogrel (Plavix) after a recent MI to maintain blood fluidity and to prevent future cardiac events. He recalls, however, that his mother, uncle, and grandmother all took Plavix, and that they experienced some adverse effects, such as excessive bleeding, in the initial course of the drug. Which of the following testing strategies would be most appropriate before dosing this patient for clopidogrel?

A. Complete blood count

B. FISH analysis for the patientŐs karyotype

C. Probing for the cyp450 2C19 polymorphism

D. Prothrombin time

E. Western blot analysis of blood proteins

2. (D1) A 45-year-old woman who missed a menstrual period has a positive pregnancy test. A 16 weeks gestation a fetal ultrasound examination is performed and nuchal thickening is noted. Which of the following tests on amniotic fluid is most appropriate to perform in this case?

A. Acetylcholinesterase

B. Alpha-fetoprotein

C. Human chorionic gonadotropin

D. Karyotyping

E. Polymerase chain reaction

F. Unconjugated estriol

3. (D2) A 44-year-old man is worried about colon cancer because his sister was diagnosed with colon carcinoma at age 46. His aunt died from endometrial carcinoma at age 40. He is offered genetic testing. Which of the following is the greatest risk to him with performance and reporting of these tests?

A. Inability to obtain insurance

B. Increased risk for colon cancer

C. Radiation-induced carcinoma

D. Separation from his spouse

4. (D3) A 48 year-old woman presents with breast tenderness and nipple discharge for the past 2 months. An ultrasound examination reveals cystic degeneration and the presence of focal calcifications in her right breast. A fine needle aspirate is performed in the mammography suite, and subsequent testing reveals the presence of HER2 gene amplification. Which of the following methodologies was most likely utilized to obtain this result?




D. Southern Blot

E. Western Blot

5. (D3) A quality assurance project in the laboratory reveals that over 90% of specimens submitted for polymerase chain reaction (PCR) testing for an uncommon organism were reported as positive in the past month. Which of the following is the most likely reason for this observation?

A. Increased prevalence of gene mutations in the organism

B. Mislabeling of specimens submitted

C. Reporting errors in the laboratory information system

D. Specimen cross contamination

E. Technical errors in test performance

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