Molecular Applications

Question 1

1. What is generally considered a significant change in a patient’s HIV-1 viral load?
   a. 0.2 log10 copies/mL
   b. 0.3 log10 copies/mL
   c. 0.5 log10 copies/mL
   d. 1.0 log10 copies/mL

Answer 1

b. 0.3 log10 copies/mL

Question 2

2. For nucleic acid testing of CT and NG, how long do NAATs
   remain positive after successful treatment of patients?
   a. 1 day
   b. 1 week
   c. 3 weeks
   d. 3 months

Question 3

3. Which is a gene target used extensively in taxonomic
   metagenomics studies?
   a. 5S rRNA
   b. 16S rRNA
   c. 23S rRNA
   d. 30S rRNA

Question 4

4. Which of the following is the most common mutation
   identified in the CFTR gene?
   a. p.Arg68Cys
   b. p.Arg117His
   c. p.Ile507del
   d. p.Phe508del

Question 5

5. Which of the following HTT genotypes would be diagnostic for Huntington disease? CAG repeats of:
   a. 17 and 34
   b. 19 and 45
   c. 12 and 15
   d. 14 and 27

Question 6

6. Whole exome sequencing is most useful in patients:
   a. with a constellation of findings associated with a
   known microdeletion syndrome
   b. with a phenotype suspected to be the result of a balanced translocation
   c. with a constellation of findings that are not associated with any known disorder
   d. with a phenotype suspected to be related to a mutation in a single gene

Question 7

7. What is the most common ctDNA used for clinical tests
   in cancer patients?
   a. methylated DNA
   b. integrated DNA
   c. amplified genomic DNA
   d. mutation in DNA of gene exons
   e. viral DNA

Question 8

8. In nasopharyngeal carcinoma patients, what viral ctDNA
   is of clinical utility?
   a. Herpes virus
   b. Papilloma virus
   c. EB virus
   d. HIV virus

Question 9

9. In non-small cell lung cancer patients, what cancer mutation and detection method is most frequent and FDA
   approved for ctDNA monitoring of the respective targeted therapy?
   a. BRAF
   b. EGFR
   c. KRAS
   d. P53

Question 10

10. What are the main benefits of CTCs analysis?
    a. It is easy, standardized, and high throughput
    b. It can give valuable prognostic and predictive information for the presence of active metastasis in cancer
    patients both at the DNA, and at the gene expression
    level
    c. CTCs are directly comparable with the primary
    tumor
    d. CTCs are all identical and thus easy to detect at very
    low levels

Question 11

11. Cell free-fetal DNA
    a. is predominantly cleared via the maternal kidneys
    b. is predominantly shorter than the maternally derived
    cell-free DNA in maternal plasma
    c. shows a peak size of 246 bp
    d. is the predominant species of cell-free DNA in maternal plasma
    e. is predominantly derived from the fetal liver

Question 12

12. Analysis of cell-free fetal DNA
    a. using maternal serum is preferred over maternal plasma
    b. is only applicable during the second trimester of
    pregnancy
    c. could only be achieved by the detection of chromosome Y
    d. is important to assess the fetal fraction
    e. cannot be based on massively parallel sequencing due
    to its scarce quantity

Question 13

13. Noninvasive fetal chromosomal aneuploidy assessment
    by circulating cell-free fetal DNA analysis
    a. is only applicable to trisomy 13
    b. could be preceded by conventional maternal serum
    biochemistry screening
    c. shows equal performance for chromosome 21 and
    the sex chromosomes
    d. is not applicable to the deletion of fetal microdeletion
    e. is restricted to the third trimester of pregnancy

Question 14

14. The most sensitive method for routine molecular monitoring of response to TKI therapy in chronic myelogenous leukemia patients is
    a. fluorescence in situ hybridization
    b. massively parallel sequencing
    c. RT-qPCR
    d. karyotyping

Question 15

15. TP53 loss of function mutations confer a poor prognosis
    in hematopoietic malignancies as TP53 generally plays
    the role of
    a. receptor tyrosine kinase
    b. tumor suppressor
    c. RNA splicing molecule
    d. chromatin modifier

Question 16

16. BRAF V600E mutation is an example of a mutation
    which affects signal transduction pathways and is commonly detected in
    a. Acute myeloid leukemia
    b. Chronic myelogenous leukemia
    c. Myelodysplastic syndrome
    d. Hairy cell leukemia