(MDT) EXAM STUDY GUIDE 2026/2027
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1. What is molecular diagnostics? - ANSWER ✔ -A family of techniques
used to analyse biological markers, such as mutations, in an individuals
genetic code (genome), to analyse how their cells express their genes as
proteins (proteome), or the presence of biomolecules from pathogenic
microorganisms in infectious disease.
-MDx offers more rapid and accurate insight with greater sensitivity and
specificity than traditional diagnostic methods.
-MDx allows the detection and monitor disease (diagnostics), assess risk
(prognostics), and personalise therapies by determining which treatments will
work best for an individual patient (pharmacogenomics).
2. What is genetics? - ANSWER ✔ The study of genes, genetic variation and
heredity in organism.
3. What is genomics? - ANSWER ✔ The study of the genomes of organisms,
initially revealing static gene sequences and enabling functional genomics.
4. What is transcriptomics? - ANSWER ✔ -The study of the complete set of
RNA transcripts of a cell, typically referring to just mRNA, but may refer to
all RNA.
-Analysing gene expression patterns to identify disease states and pre-
symptomatic changes.
5. What is proteomics? - ANSWER ✔ -The large-scale study of organisms.
,-Proteins are functional biomarkers; proteomics reveals disease mechanisms
beyond gene expression.
6. What is metabolomics? - ANSWER ✔ -The large-scale study of small
molecules.
7. -This reflects real-time metabolic state influenced by genetics and
environment, aiding biomarker discovery.
8. What is diagnostics? - ANSWER ✔ Determining a disease of condition.
9. What is pharmacogenomics? - ANSWER ✔ The study of how a persons
genome affects the response to treatment. This enables targeted therapies
and personalised medicine.
10.What is the purpose of using Personal Protective Equipment (PPE) in the
lab? - ANSWER ✔ To protect against biological and chemical hazards
11.What does the OSHA Bloodborne Pathogens Standard regulate? - ANSWER
✔ It applies to all labs handling human specimens
12.What is the purpose of a Safety Data Sheet (SDS)? - ANSWER ✔ It
contains information about health hazards, first aid, and disposal for
chemicals
13.What is the difference between Quality Assurance (QA) and Quality Control
(QC)? - ANSWER ✔ QA prevents errors before they occur; QC detects
errors during testing
14.What is required under CLIA regulations regarding Quality Assurance? -
ANSWER ✔ Both QA and QC are required
15.What does HIPAA protect? - ANSWER ✔ Patient health information
(PHI)
16.What is the role of the College of American Pathologists (CAP)? -
ANSWER ✔ It is an accrediting body that requires Standard Operating
Procedures (SOPs) for all tests
,17.What happens during the denaturation step of PCR? - ANSWER ✔
Double-stranded DNA is separated into single strands at ~95°C.
18.What is the purpose of the annealing step in PCR? - ANSWER ✔ Primers
bind to the complementary DNA template at ~55-65°C.
19.What does the extension step in PCR involve? - ANSWER ✔ Taq
polymerase extends from primers using dNTPs at ~72°C.
20.What is the typical duration of a PCR run? - ANSWER ✔ 1-3 hours
depending on conditions.
21.What is the role of quantitative PCR in monitoring HBV? - ANSWER ✔ It
is used for monitoring viral load and detecting surface antigen/core
mutations.
22.What is the significance of the FLT3-ITD mutation in AML? - ANSWER
✔ It drives poor prognosis in Acute Myeloid Leukemia.
23.What is the common method for nucleic acid extraction? - ANSWER ✔
Silica-based spin columns.
24.What is the consequence of using FFPE tissue for DNA extraction? -
ANSWER ✔ Cross-linking degrades DNA, resulting in lower quality.
25.Which of the following best describes single nucleotide polymorphisms,
SNPs?
a. A nucleotide or sequence that codes for a different amino acid
b. The most common alteration and a single base change
c. A missing nucleotide or other portion of DNA sequence
d. An extra DNA nucleotide or other portion of DNA sequence -
ANSWER ✔ The most common alteration and a single base change
26.Which of the following characteristics are common to both RNA and DNA?
a. Both exist primarily as single-stranded molecules
, b. Both consist of a sugar, phosphate residue, and a purine or pyrimidine
base
c. Both contain the pyrimidine uracil
d. Both are linked by disulfide bonds - ANSWER ✔ Both consist of a
sugar, phosphate residue, and a purine or pyrimidine base
27.If you see amplification in the negative control on a PCR, what should you
do next?
a. Repeat all negative samples
b. Repeat the entire rune
c. Repeat all positive samples
d. Repeat only low positive samples - ANSWER ✔ Repeat the entire
run
28.A physician called the microbiology laboratory and asked what he needed to
order to quickly diagnose Bordetella pertussis from a child who had what
appeared to be having whooping cough. Which of the following should the
physician be told to order?
a. Direct fluorescent antibody (DFA) test only
b. Culture only
c. PCR testing
d. IgG and IgM antibody tests - ANSWER ✔ PCR testing
29.Which is the main limitation of standard PCR that is not a limitation of real-
time PCR?
a. Requirement of a large initial sample
b. The procedure requires endpoint measurement that may not be in
direct proportion to the initial sample
c. Ability to detect PCR product during the plateau stage
d. Slow turnaround time compared to culture methods - ANSWER ✔
The procedure requires endpoint measurement that may not be in
direct proportion to the initial sample
30.In DNA sequencing, multiple fluorescence labeled nucleotides are
commonly separated using what type of test?