Molecular Diagnostics
Test Preparation
Course Introduction
Molecular Diagnostics is an advanced course that explores the principles and applications of molecular biology techniques in the detection and characterization of genetic, infectious, and neoplastic diseases. Students will learn about nucleic acid extraction, amplification methods such as PCR and real-time PCR, as well as sequencing technologies and molecular markers. The course covers the interpretation of diagnostic results, quality control, and the integration of molecular tests in clinical laboratories. Emphasis is placed on current and emerging molecular diagnostic tools used in personalized medicine, pathogen identification, and the management of hereditary conditions.
Recommended Textbook
Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics 7th Edition by Carl A. Burtis
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Chapter 1: Clinical Chemistry, molecular Diagnostics, and Laboratory Medicine
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Q1) A patient visits her physician stating that her prescribed painkiller is not working to reduce the pain following her recent surgery.A friend of the patient claims that the same painkiller "worked wonders" to reduce her pain after the same surgery.The physician states that the difference in the effect of the drug might be caused by ____,which is studied in pharmacogenetics.
A) epidemiology
B) an inherited disease
C) a conflict of interest
D) a genetic variation in drug-metabolizing enzymes
Answer: D
Q2) Clinical epidemiology,which is the study of the patterns,causes,and effects of health and disease in certain populations,has provided the clinical laboratory with methods that evaluate the effects and outcomes of laboratory testing.This allows for a more effective:
A) process of determining the cost of the testing methods.
B) selection and interpretation of laboratory tests.
C) determination of the boundaries between the components of the clinical lab.
D) conduct assessment.
Answer: A
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Chapter 2: Selection and Analytical Evaluation of
Methodswith Statistical Techniques
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Sample Questions
Q1) Comparisons of measurement values between clinical laboratories require a hierarchical approach that obliges routine clinical chemistry measurements to be referred back to a reference measurement procedure.This concept is known as:
A) uncertainty.
B) error.
C) traceability.
D) reliability.
Answer: C
Q2) The type of method comparison that compares the average results between two analyses with the differences between varying concentration values of the two analyses is referred to as a(n):
A) Deming analysis.
B) linear regression plot.
C) ordinary least-squares plot.
D) Bland-Altman difference plot.
Answer: D
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Chapter 3: Clinical Evaluation of Methods
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Sample Questions
Q1) Combination testing involves the use of multiple laboratory tests in an attempt to decrease costs or assist in diagnosing a specific disease.One of the problems with this type of testing is that:
A) false-positive results increase.
B) true-negative results increase.
C) the prevalence of the disease increases.
D) the predictive value of a negative test increases.
Answer: A
Q2) A receiver operating characteristic (ROC)curve is a plot of:
A) systematic error against random error.
B) tumor marker decision levels versus upper limit of reference intervals.
C) true positives versus false positives.
D) specificity of one method against the specificity of another method.
Answer: C
Q3) In regard to clinical evaluation of method,a high clinical sensitivity means few false negatives.
A)True
B)False
Answer: True
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Page 5
Chapter 4: Evidence-Based Laboratory Medicine
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Sample Questions
Q1) In a study of diagnostic accuracy,the selection of the study groups was not random and included only a few individuals in each group.This would likely affect which one of the following?
A) Internal validity
B) External validity
C) The clinical reference standard
D) Index test
Q2) Following a systematic review,random control studies,clinical audit,and a cost evaluation,an assay for assessment of growth hormone level as a predictor of bone cancer has been recommended by a group of orthopedic surgeons to be performed in your chemistry laboratory.What is the next step before implementation of the assay?
A) Evaluating the costs of alternative methods to produce similar outcomes
B) Developing a clinical practice guideline for implementation of the assay
C) Performing a meta-analysis
D) Beginning a second round of randomized control trials
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Chapter 5: Establishment and Use of Reference Values
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Sample Questions
Q1) True negatives ÷ (false positives + true negatives) * 100 is the formula for determining:
A) clinical sensitivity.
B) clinical specificity.
C) analytical sensitivity.
D) analytical specificity.
Q2) Even if somewhat impractical,which one of the following preanalytical factors should be standardized when establishing a reference interval for an analyte?
A) Location (building,city,etc.)in which the venipuncture is performed
B) The method of specimen collection
C) Reagents used in analyte analysis
D) The specific method used for analysis
Q3) The results of a certain type of quantity obtained from a single individual or group of individuals corresponding to a stated description is the definition of:
A) reference intervals.
B) reference limits.
C) clinical decision limits.
D) reference values.
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Chapter 6: Specimen Collection, processing, and Other
Preanalytical Variables
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Sample Questions
Q1) Heparin
A)Yellow
B)Lavender
C)Gray
D)Green
Q2) EDTA
A)Yellow
B)Lavender
C)Gray
D)Green
Q3) A skin puncture of an individual's finger is ordered for hematocrit analysis and is to be collected into a capillary tube.It is cold in the phlebotomy area,and the phlebotomist notices that the individual appears cold and pale.What should the phlebotomist do to stimulate blood circulation to the finger so an acceptable fingerstick specimen will be obtained?
A) Slap the individual's hand to warm it up.
B) Tie a tourniquet around the individual's finger.
C) Warm the finger for 3 minutes using a warming device.
D) Massage the finger and hand.
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Chapter 7: Quality Management
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Q1) You have received your proficiency test results from the accrediting agency and note that your creatinine result was unacceptable at greater than 2 SDI from the group mean.The value that was entered on your survey report form was 15 mg/dL.The group method mean was 1.3 mg/dL with a method standard deviation of 0.3 mg/dL.You realize that your laboratory made an error in entering the result.If you had entered 2.0 mg/dL as the result on your survey report,would the recalculated SDI now be in agreement with the rest of the laboratories in the testing program?
A) Yes
B) No
C) Cannot determine from information given
Q2) Preparation of a CLSI-defined procedure document of an analytical protocol is a means of controlling which one of the following types of variables?
A) Analytical
B) Preanalytical
C) Postanalytical
D) Reproducibility
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Chapter 8: Principles of Basic Techniques and Laboratory
Safety
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Sample Questions
Q1) Universal Precautions:
A) consist of shipping standards that divide potentially infectious specimens or substances into risk groups.
B) state that only HIV,hepatitis,and sexually transmitted disease-positive specimens should be considered and handled as infectious material.
C) state that hand washing is only necessary before entering a clinical laboratory.
D) consist of guidelines that in part necessitate the wearing of barrier protection when handling potentially infectious material.
Q2) Which one of the following statements concerning type I water is not correct?
A) Type I water is acceptable for analytical purposes.
B) Testing that requires minimal interferences (such as iron or enzyme analysis)requires the use of type I water.
C) Type I water is obtained from distillation only and contains a few impurities.
D) Type I water results in part from ion exchange purification and reverse osmosis.
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Chapter 9: Optical Techniques
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Q1) In regard to absorption photometry,absorbance is calculated from transmittance by which one of the following formulae?
A) A = log %T - 2
B) A = log T
C) A = -log T
D) A = abc
Q2) In regard to atomic absorption (AA)spectrophotometry,which one of the following statements is correct?
A) The technique combines laser-induced fluorometry and particle light scattering analysis to differentiate molecules,cells,or particles by size and shape.
B) The technique measures concentration through the detection of absorbance of electromagnetic radiation by atoms of elements instead of molecules.
C) Oxidation of an organic compound such as luminol induces an excited state,and light is emitted when the electron returns to the ground state.
D) The amount of light scattered at right angles to the incident light is directly proportional to the concentration of the analyte of interest.
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Chapter 10: Electrochemistry and Chemical Sensors
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Q1) A physician is concerned about an emphysema patient's PO<sub>2</sub> level and wants to determine it in this patient's blood.Which one of the following would be best used to determine PO<sub>2</sub>?
A) Ion-selective electrode
B) Coulometric method
C) Amperometric method
D) Conductivity-based measurement
Q2) Which one of the following voltage potentials occurs as the result of chemical equilibrium involving electron transfer reactions?
A) Electrode potential
B) Positive potential
C) Hydrogen potential
D) Redox potential
Q3) A commonly used glass electrode that is used as a reference electrode in pH measurements is the _____ electrode.
A) calomel
B) mercury vapor
C) silver/silver chloride
D) platinum
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Page 12
Chapter 11: Electrophoresis
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Sample Questions
Q1) The process of transferring the electrophoresed DNA fragments out of a gel and onto a special nylon paper is referred to as:
A) Southern blotting.
B) Northern blotting.
C) Western blotting.
D) hybridization.
Q2) The component of an electrophoresis system that carries the applied current and establishes the pH at which electrophoresis is performed is the:
A) power supply.
B) buffer.
C) support media.
D) stain.
Q3) If the viscosity of the support medium used in a protein electrophoresis system is too high (thick),the rate of migration will:
A) increase.
B) decrease.
C) not be affected.
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Chapter 12: Chromatography
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Q1) A measure of peak separation in a chromatographic method that equals the difference in retention time for two components divided by the average of their peak widths is the definition of:
A) retention factor.
B) derivatization.
C) resolution.
D) affinity.
Q2) Which one of the following improvements could be made to increase the chromatographic (separation)efficiency of a poorly resolved HPLC separation?
A) Using a shorter column
B) Changing the composition of the mobile phase
C) Using smaller particles in the stationary phase
D) Increasing the dead volume
Q3) The type of separation mechanism for chromatography that involves,as one example,use of immunologic principles is _____ chromatography.
A) ion exchange
B) affinity
C) partition
D) adsorption
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Page 14
Chapter 13: Mass Spectrometry
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Q1) How is trapping-type spectrometry different from typical beam-type mass spectrometry?
A) Trapping-type mass spectrometry uses a UV laser to ionize small amounts of matrix and analyte that are directed to the mass analyzer,while beam-types use chemical ionization only.
B) Beam-type mass spectrometry is primarily for complex compound analysis,while trapping-type mass spectrometry is used for elemental analysis only.
C) Trapping-type mass spectrometry uses an ion trap designed to collect ions in three dimensions instead of two dimensions as in a typical beam-type mass spectrometer.
D) Trapping-type mass spectrometers are arranged sequentially in tandem with a gas chromatograph and a "collision cell" placed between the two instruments.
Q2) An example of a clinical application of an HPLC coupled to a tandem mass spectrometer would be:
A) determining the presence of trace elements in blood.
B) screening and confirming the presence of inborn errors of metabolism.
C) identifying specific protein.
D) quantifying drugs of abuse.
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Chapter 14: Enzyme and Rate Analyses
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Q1) The interaction of the amino acid side chains with the arrangement of the \(\alpha\)-helices and \(\beta\)-sheets to form a three-dimensional protein structure is called the _____ structure of the protein.
A) primary
B) secondary
C) tertiary
D) quaternary
Q2) How does pH alter an enzymatic reaction rate?
A) By affecting key amino acids in the enzyme protein at the active center and other sites
B) By causing thermal inactivation through reconfiguration of the prosthetic group
C) By promoting the formation of the most active state of the enzyme
D) By decreasing the K<sub>m</sub> needed for maximum velocity to be reached
Q3) In an enzyme immunoassay such as ELISA,the specificity of the labeled enzyme is the most important aspect of the measurement.
A)True
B)False
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Chapter 15: Immunochemical Techniques
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Q1) The light-scattering immunochemical method that is considered to have the best sensitivity and a lower detection limit for serum proteins is:
A) nephelometry.
B) electroimmunoassay.
C) turbidimetry.
D) Western blotting.
Q2) In an enzyme immunoassay with an enzyme-labeled antigen,if there is a high concentration of patient antigen,will there be _____ enzyme available to bind substrate.
A) more
B) less
Q3) Which one of the following methods is not a quantitative immunoassay method?
A) Nephelometry
B) Counter immunoelectrophoresis (CIE)
C) ELISA
D) Electroimmunoassay
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Chapter 16: Automation
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Q1) In a chemiluminescent analyzer system:
A) the excitation event that produces light is caused by a chemical reaction.
B) reagents are impregnated on films or filter paper strips of the slide.
C) the intensity of emitted light is directly proportional to the concentration of analyte.
D) diffuse reflected light is measured.
Q2) If programmed appropriately,a multiple-channel analyzer could assess samples as a single-channel analyzer.
A)True
B)False
Q3) The type of automated analyzer in which the operator is able to use in-house reagents or reagents purchased from suppliers different from the analyzer's manufacturer is referred to as a(n):
A) discrete analyzer.
B) random-access analyzer.
C) open analyzer system.
D) closed analyzer system.
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18
Chapter 17: Point-Of-Care Instrumentation
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Q1) Regarding internal quality control (QC)for a bench top analyzer:
A) it is safe to assume that the manufacturer has performed all necessary QC.
B) at least one QC sample should be run a minimum of once per shift.
C) one QC sample should be analyzed whenever there is a change to the testing system.
D) QC samples can be assessed once a day for frequently used devices.
Q2) The Connectivity Industry Consortium (CIC)developed a:
A) set of management standards for the whole process of delivering a high quality POCT service.
B) standard that requires all personnel associated with the delivery of diagnostic results demonstrate their competence.
C) set of standards that ensures POCT devices meet critical user requirements such as interfacing between POCT devices and information systems.
D) standard for quality control that allows POCT devices to use a docking station to assess the quality of that device's results.
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Chapter 18: Amino Acids, peptides, and Proteins
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Sample Questions
Q1) Decreased serum ceruloplasmin
A)Wilson disease
B)Intravascular hemolysis
C)Inflammation
D)Chronic renal disease
Q2) Elevated retinol-binding protein
A)Wilson disease
B)Intravascular hemolysis
C)Inflammation
D)Chronic renal disease
Q3) Refractometry is a rapid,semiquantitative method of total protein determination.Which of the following will lead to a faulty interpretation of protein values obtained by refractometry?
A) Serum protein less that 3.5 g/dL
B) Lipemia
C) Bilirubinemia
D) All of the above
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Chapter 19: Serum Enzymes
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Q1) Which one of the following enzymes catalyzes the transfer of an amino group to alpha- ketoglutarate with the formation of oxaloacetate and glutamate?
A) Alanine aminotransferase (ALT)
B) Aspartate aminotransferase (AST)
C) Alkaline phosphatase (ALP)
D) 5'-Nucleotidase (NTP)
Q2) Why is heparin the only acceptable anticoagulant to use when obtaining blood samples for ALP analysis?
A) Heparin contains necessary cofactors for ALP to reach full enzyme activity.
B) Other anticoagulants contain inhibitors of magnesium,which is a required cofactor for ALP activation.
C) Heparin maintains the integrity of the ALP molecule through freeze-thaw cycles.
D) Other anticoagulants bind ALP and reduce its ability to react with substrate in enzyme reactions.
Q3) Pyridoxal phosphate
A)Creatine kinase
B)Aspartate aminotransferase
C)Amylase
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Chapter 20: Tumor Markers and Cancer Genes
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Q1) One of the mutations that is found most frequently in cancers and can ultimately lead to colon cancer involves a:
A) translocation of the K-ras proto-oncogene to chromosome 14.
B) point mutation in the K-ras proto-oncogene.
C) frameshift mutation in the N-ras proto-oncogene.
D) large deletion in the N-ras proto-oncogene.
Q2) A physical agent,such as exposure to ultraviolet light for an extended period of time,or a biological agent,such as a virus,may cause cancer.These agents are referred to as:
A) tumor markers.
B) carcinogens.
C) tumor suppressors.
D) oncogenes.
Q3) Upon receipt of a test request for assay of human chorionic gonadotropin (hCG)on a 60-year-old male,you would:
A) refuse the request because hCG is a pregnancy test and not performed on men.
B) assume the physician wanted a prostate-specific antigen (PSA)test.
C) perform the test because hCG can be elevated in testicular germ cell tumors.
D) contact the physician.
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Page 22
Chapter 21: Kidney Function Test-Screatinine, Urea, and Uric Acid
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Q1) Creatininase reactions for creatinine assessment:
A) yield sarcosine and urea.
B) require the addition of potassium ferricyanide to reduce interference.
C) catalyze the conversion of creatinine to creatine.
D) catalyze the conversion of creatinine to N-methylhydantoin and ammonia.
Q2) Uricase is used in the assay of uric acid to:
A) decarboxylate uric acid to form tungsten blue.
B) oxidize uric acid to form allantoin.
C) reduce uric acid to form allantoin.
D) reduce uric acid to form tungsten blue.
Q3) Which of the following is the primary reagent used in the Jaffe reaction for creatinine?
A) Alkaline copper sulfate
B) Phosphotungstic acid
C) Alkaline picric acid
D) Diacetyl monoxime
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Chapter 22: Carbohydrates
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Q1) A 75-year-old man was brought by his daughter to a hospital emergency department.He was in a confused state,trembling,sweating,with a rapid pulse,lightheadedness,and complaining of hunger and epigastric discomfort.His daughter claims that he does not drink alcohol and that he takes oral hypoglycemic drugs to control his diabetes.What is the likely cause of his symptoms?
A) The oral hypoglycemic drugs are affecting his thyroid gland.
B) He is likely suffering from pheochromocytoma and the effects of increased epinephrine.
C) He has possibly taken too much of his medication and is suffering from hypoglycemia.
D) His diabetes is not being adequately controlled and is leading to lactic alkalosis.
Q2) What effect does epinephrine have on blood glucose value?
A) Increases
B) Decreases
Q3) What effect does salicylate have on blood glucose value?
A) Increases
B) Decreases
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Page 24
Chapter 23: Lipids, lip-Oproteins, apolipoproteins, and
Other Cardiac Risk Factors
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Q1) The difference between traditional HDL cholesterol assays and the direct homogeneous assay is that:
A) there is no physical separation of HDL from the non-HDL fractions and HDL is selectively measured.
B) precipitation of non-HDL lipoproteins must occur using polyanions.
C) enzymatic measurement of HDL occurs after non-HDL lipoproteins are removed by ultracentrifugation.
D) measurement of the rate of oxygen consumption occurs before removal of non-HDL lipoproteins.
Q2) Cholesterol is esterified to form a cholesteryl ester by acylcholesterol acyltransferase in the cell.In the circulation,cholesteryl esters are formed by the action of which one of the following enzymes?
A) HMG CoA reductase
B) Cholesterol oxidase
C) Lecithin cholesterol acyltransferase
D) Fatty acid hydrolase
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25
Chapter 24: Electrolytes and Blood Gases
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Q1) An increase in blood pH with a concomitant decrease in PCO<sub>2</sub> and a decreased body temperature and 2,3-diphosphoglycerate will cause the oxygen dissociation curve to:
A) shift to the right.
B) shift to the left.
C) remain unchanged.
Q2) The specimen of choice for measurement of potassium (K<sup>+</sup>)is plasma because:
A) anticoagulants preserve the potassium ionic activity better than serum.
B) platelets release potassium during the coagulation process in a serum sample.
C) hemolysis is easily avoided when obtaining a plasma sample.
D) the electrolyte exclusion effect is avoided in a plasma sample.
Q3) In the Henderson-Hasselbalch equation,the term "pK'" is the:
A) coefficient for oxygen in blood.
B) solubility coefficient for potassium.
C) negative log of hydrogen ion activity.
D) negative log of the combined dissociation constant for carbonic acid.
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Chapter 25: Hormones
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Q1) An example of a protein hormone synthesized in the hypothalamus,with the principal action to control the release of thyroid-stimulating hormone,is:
A) prolactin.
B) thyroid stimulating hormone.
C) ACTH.
D) thyrotropin releasing hormone.
Q2) Which of the following is an effect of increased parathyroid hormone (PTH)secretion from the parathyroid gland in the homeostatic control of serum calcium?
A) Decreased blood calcium levels
B) Increased renal absorption of phosphate
C) Decreased bone calcium efflux from the skeleton
D) Increased intestinal absorption of calcium
Q3) Which one of the following hormones requires a transport protein to move it through the circulation?
A) Prolactin
B) Aldosterone
C) Estrogen
D) Parathyroid hormone
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Chapter 26: Catecholamines and Serotonin
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Q1) An overnight fast is recommended for individuals being tested for carcinoid syndrome because:
A) dietary interference,particularly with foods that contain 5-hydroxyindoles,will produce a false increase in plasma 5-HIAA measurement.
B) no food should be present in the GI tract for 12 hours before analysis of catecholamine metabolites.
C) monoamine systems are targets of certain components of foods that contain tyrosine,and a false-negative result will occur in HVA testing.
D) certain foods interfere with the methods of analysis used for serotonin analysis,particularly the high performance liquid chromatography (HPLC)assays.
Q2) Melatonin
A)Gastroenteropancreatic endocrine tumor
B)Tumor of adrenal medullary chromaffin cells
C)Pineal gland tumor
D)Neuroblastoma
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Chapter 27: Vitamins, Trace Elements, and Nutritional Assessment
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Q1) Poor dark adaptation or night blindness is associated with:
A) pernicious anemia.
B) hypervitaminosis B<sub>12</sub>.
C) scurvy.
D) deficiency of vitamin A.
Q2) Which one of the following vitamins would be least affected by long periods of fat malabsorption?
A) A
B) E
C) D
D) C
Q3) The trace element that is important in the stabilization of the surface of a regenerating tooth is:
A) copper.
B) boron.
C) fluoride.
D) manganese.
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Page 29
Chapter 28: Hemoglobin, Iron, and Bilirubin
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Q1) Bilirubin is considered to be the breakdown product of:
A) cholesterol.
B) protoporphyrin IX.
C) glucose and maltose.
D) urobilinogen.
Q2) In a certain hemoglobin structural variant,a deletion in the coding gene results in a reduction of the production of the beta globin chain.This will result in:
A) decreased quantity of HbA.
B) hemolysis of red blood cells due to unstable hemoglobin.
C) a sickling disorder due to insoluble hemoglobin.
D) an \(\alpha\)-thalassemia due to overproduction of alpha-globin chains.
Q3) An 80-year-old patient visits his physician with an elevated serum iron value and a decreased TIBC.The most likely diagnosis in this case is:
A) iron deficiency anemia.
B) chronic inflammation.
C) hemochromatosis.
D) acute bleeding ulcer.
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Chapter 29: Porphyrins and Porphyrias
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Q1) A physician calls the laboratory stating that one of her patients is exhibiting what she suspects to be an acute porphyric attack.The patient is having acute abdominal pains and seems apathetic and distant.If the urine test for PBG in the preceding question is strongly positive and remains elevated for 2 weeks or longer,which one of the following is the most likely disease process?
A) Lead poisoning
B) EPP
C) AIP
D) PCT
Q2) Which one of the following cofactors is required for heme synthesis?
A) Ascorbic acid
B) Pyridoxal phosphate
C) Cobalamin
D) Niacin
Q3) A group of compounds containing four monopyrrole rings connected by methane bridges is the:
A) porphyrins.
B) porphyrias.
C) porphobilinogens.
D) heme precursors.
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Chapter 30: Therapeutic Drugs and Their Management
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Q1) A hospitalized patient is being given gentamicin to treat a gram-negative bacterial infection.The patient's physician contacts you regarding monitoring of this antibiotic because this patient is beginning to exhibit signs of hearing loss and renal failure.When you assess the patient's 10-hour postinfusion trough antibiotic concentration,it is increased.You learn from the physician that he has been dosing the patient to keep the antibiotic concentration high,"at a steady state" he tells you.You state that:
A) it would be better to change antibiotics because the patient is obviously allergic to gentamicin.
B) you have made an error in the method of assessment of this antibiotic and need to repeat the analysis.
C) with aminoglycoside antibiotics,trough concentrations must be allowed to decrease because of the postantibiotic effect.
D) aminoglycosides display peak level concentration-dependent killing of microorganisms and the dosage should be increased even more.
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Chapter 31: Clinical Toxicology
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Q1) Atropine
A)Salicylic acid
B)Acetaminophen
C)Cyanide
D)Organophosphates
Q2) Hydroxycobalamin
A)Salicylic acid
B)Acetaminophen
C)Cyanide
D)Organophosphates
Q3) The most common laboratory method for detection,discrimination,and quantitation of alcohols in biological specimens is:
A) immunoassay.
B) HPLC.
C) spectrophotometry.
D) flame ionization gas chromatography (GC).
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Chapter 32: Toxic Metals
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Q1) When reporting the results of a urine metal analysis,such as urine chromium,how are the results reported?
A) In millimoles of drug per liter of urine per 24 hours
B) As micrograms of metal per milliliter of urine in a random specimen
C) In concentration units of the metal of interest per gram of creatinine
D) As milligrams of metal/deciliter of urine
Q2) Lead
A)Reduced to a nontoxic form in biological specimens
B)Blood specimens are not especially useful; urine is best
C)Requires a lymphocyte proliferation test; serum or urine quantification is not useful
D)To examine erythrocytes,EDTA-anticoagulated blood is specimen of choice
Q3) Which one of the following is a toxic metal that produces Mees' lines upon overdose exposure by denaturing keratin in fingernails?
A) Aluminum
B) Arsenic
C) Chromium
D) Gadolinium
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Chapter 33: Diabetes
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Q1) Although not a routine clinical laboratory screening test,measurement of insulin secretion in a potential diabetic is important because:
A) an increase in insulin indicates the onset of hypoglycemia and the presence of advanced glycation end products.
B) increased insulin leads to retinopathy,nephropathy,and neuropathy.
C) a decrease in insulin will cause overstimulation of the GLUT4 transporter and low blood glucose.
D) a decrease in glucose-stimulated insulin secretion is the first functional abnormality in both types of diabetes.
Q2) The role of the clinical laboratory in diagnosis of diabetes mellitus involves initial diagnostic criteria.For many years,the only diagnostic criterion required was demonstration of hyperglycemia in two or more fasting plasma glucose tests.What other laboratory analysis is now considered to be useful as a diagnostic criterion?
A) Demonstration of impaired glucose tolerance in the OGTT
B) Consistent hyperglycemia after a 72-hour fast
C) Presence of ketones in urine on more than one occasion
D) Demonstration of elevated hemoglobin A<sub>1c</sub>
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Page 35
Chapter 34: Cardiovascular Disease
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Sample Questions
Q1) Enzyme isoform
A)BNP
B)CK-MB
C)Troponin
D)Myoglobin
Q2) Why would high-sensitivity C-reactive protein (CRP)be an indicator of a potential myocardial infarction?
A) It is an acute phase reactant plasma protein that rises in response to inflammation and the atherosclerotic process.
B) CRP levels rise in response to decreased ATP generation in the heart.
C) It is a myocardial protein that regulates muscle contraction through interaction with myosin and actin.
D) It is an enzyme found in skeletal muscle and cardiac muscle that is released upon muscle damage.
Q3) Laboratory measurements for brain natriuretic peptide (BNP)be reported in:
A) millimoles/liter.
B) grams/deciliter.
C) nanograms/liter.
D) picomoles/milliliter.
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Page 36
Chapter 35: Kidney Disease
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Q1) In multiple myeloma,what protein is likely causing an elevated value in the urine protein confirmatory test?
A) Tamm-Horsfall protein
B) Bence Jones protein
C) Haptoglobin
D) Mucoprotein
Q2) You have been asked what laboratory tests should be requested to assess the electrolyte balance regulatory function of an individual's kidneys.Which of the following is your reply?
A) Serum creatinine,serum urea,serum uric acid,and creatinine clearance
B) Serum sodium and potassium,and arterial blood pH
C) Serum renin and erythropoietin
D) Serum and urine protein
Q3) Which one of the following components of the renal system is most important for regulation of plasma electrolytes and acid-base balance?
A) Bladder
B) Loop of Henle
C) Proximal convoluted tubule
D) Distal convoluted tubule
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Page 37
Chapter 36: Physiology and Disorders of
Water,Electrolyte,and Acid-Base Metabolism
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Q1) In regard to respiration,peripheral chemoreceptors located in the carotid arteries and aorta are stimulated by:
A) HCO<sub>3</sub> content of arterial blood.
B) PO<sub>2</sub> content of blood only.
C) pH only.
D) pH and PO<sub>2</sub> content of blood.
Q2) A hospitalized patient in the ICU has cirrhosis.After a period of time,the heart and kidneys begin to fail and the patient develops edema.What type of electrolyte disorder would develop from this situation?
A) Dilutional hyponatremia
B) Depletional hyponatremia
C) Hypernatremia
D) There would be no electrolyte disorder.
Q3) The most important buffer of plasma is the _____ system.
A) bicarbonate/carbonic acid
B) protein/albumin
C) phosphoric acid/phosphate
D) hemoglobin erythrocyte
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Chapter 37: Liver Disease
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Q1) Which type of hepatitis is a leading cause of chronic hepatitis and is caused by a mutating RNA virus?
A) Hepatitis A
B) Fulminant hepatitis
C) Hepatitis B
D) Hepatitis C
Q2) The first protein marker to appear approximately 1 to 2 months after infection with the hepatitis B virus and also the last marker to disappear is the:
A) antihepatitis B core antigen.
B) antihepatitis B surface antigen.
C) hepatitis B surface antigen.
D) hepatitis B immune globulin.
Q3) You operate a laboratory that receives many serum specimens from the Billy Rubin Memorial Liver Clinic next door.The patients who go to this clinic have serious acute and chronic liver diseases.Would you expect to see increased or decreased plasma albumin from the liver patients who go to this clinic?
A) Increased
B) Decreased
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Chapter 38: Gastrointestinal and Pancreatic Diseases
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Q1) An autoimmune disorder produced by ingestion of gluten and characterized by inflammatory damage to intestinal lining cells and malabsorption is:
A) Crohn disease.
B) ulcerative colitis.
C) lactose intolerance.
D) celiac disease.
Q2) Secondary acquired lactose intolerance can occur from reduced lactase activity following diffuse intestinal damage caused by,for example,inflammatory bowel disease (IBD).Which one of the following IBDs affects the large bowel in particular?
A) Celiac disease
B) Ulcerative colitis
C) Crohn disease
D) Peptic ulcer disease
Q3) Which one of the following statements concerning secretin is correct?
A) Secretin is produced by the parietal cells in the stomach.
B) The release of secretin is controlled by the presence of glucose in the blood.
C) The function of secretin is to relax smooth muscle of the gut.
D) Secretin stimulates release of pancreatic hormones.
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Chapter 39: Disorders of Bone and Mineral Metabolism
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Q1) Magnesium:
A) concentration is present mostly in the complexed state.
B) decrease produces neuromuscular excitability.
C) is the second most abundant intracellular cation.
D) concentration is decreased with excessive intake of antacids.
Q2) The major cause of the decrease in total bone mass in an aging osteoporotic woman is:
A) being postmenopausal and estrogen deficient.
B) lack of vitamin D.
C) severe hypocalcemia.
D) increased PTH.
Q3) Pseudohypoparathyroidism is characterized by tissues that are resistant to the effects of circulating levels of parathyroid hormone (PTH).Which one of the following sets of values presents expected laboratory findings in this disorder?
A) Calcium,phosphorus,and PTH within healthy reference intervals
B) Elevated calcium,decreased phosphorus,normal PTH
C) Decreased calcium,elevated phosphorus,elevated PTH
D) Elevated calcium,elevated phosphorus,decreased PTH
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Chapter 40: Disorders of the Pituitary
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Q1) The release of thyrotropin-releasing hormone from the hypothalamus stimulates thyrotropin release from the pituitary,which further leads to synthesis and secretion of thyroid hormone from the thyroid gland.When the concentration of thyroid hormone in the blood turns off the release of thyrotropin from the pituitary,this is referred to as what type of feedback?
A) Open loop feedback
B) Negative feedback
C) Positive feedback
D) Inhibitory feedback
Q2) Which one of the following hormones is responsible for normal development of cartilage and bone,mobilizing fat stores,and stimulation of protein synthesis?
A) ADH
B) ACTH
C) GH
D) Prolactin
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Chapter 41: Disorders of the Adrenal Cortex
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Q1) How would CAH affect cortisol and adrenal androgen levels in blood?
A) Cortisol increased,adrenal androgens increased
B) Cortisol decreased,adrenal androgens increased
C) Cortisol increased,adrenal androgens decreased
D) Cortisol decreased,adrenal androgens decreased
Q2) Which one of the following statements concerning cortisol is incorrect?
A) Cushing syndrome is the syndrome of hypercortisolism.
B) A cortisol-secreting tumor can lead to Cushing disease.
C) Plasma cortisol levels show a diurnal variation,with the highest level present in the morning and the lowest level in the late afternoon.
D) Hypocortisolism due to primary adrenal disease is referred to as Addison disease.
Q3) A patient with Cushing syndrome has plasma cortisol measured at 8 AM.The nighttime cortisol level will be _____ from the 8 AM value.
A) increased B) decreased
C) unchanged
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Chapter 42: Thyroid Disorders
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Q1) Which one of the following statements is correct regarding reverse T<sub>3 </sub>(rT<sub>3</sub>)?
A) rT<sub>3</sub> is physiologically active,but less so than T<sub>3</sub>.
B) rT<sub>3</sub> is formed in the blood by central deiodination of T<sub>4</sub>.
C) rT<sub>3</sub> is decreased in patients with the "euthyroid sick syndrome."
D) Renal failure is associated with elevated rT<sub>3</sub> concentrations.
Q2) What causes the total thyroxine (T<sub>4</sub>)levels to be increased in pregnant women?
A) Inappropriate iodine metabolism
B) hCG-induced thyrotoxicosis
C) Altered glucose metabolism
D) Change in thyroglobulin synthesis
Q3) The limited clinical information that is available from the results of a total T<sub>4</sub> measurement is due to:
A) interferences with circulating autoantibodies directed against the colloid.
B) the formation of fibrin clots during the preparation of the blood sample.
C) the fact that total T<sub>4</sub> measurements reflect inactive,protein-bound hormone.
D) the fact that circadian rhythms are not determined.
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Page 44
Chapter 43: Reproduction-Related Disorders
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Q1) Regarding the phases of the menstrual cycle,the suppression of luteinizing hormone synthesis by progesterone occurs during which one of the following phases?
A) Follicular phase
B) Luteal phase
C) Ovulation
D) Both a and b
Q2) In nonpregnant women,progesterone is synthesized and secreted by the: A) corpus luteum.
B) placenta.
C) pituitary gland.
D) Both a and b are correct.
Q3) The peptide hormone responsible for the discharge of the gonadotropins from the anterior pituitary gland,which causes Kallmann syndrome when deficient,is:
A) FSH.
B) gonadotropin-releasing hormone.
C) testosterone.
D) DHEA-S.
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45
Chapter 44: Pregnancy and Prenatal Testing
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Q1) Concerning alpha-fetoprotein (AFP),which one of the following statements is correct?
A) A decrease in AFP in a pregnant woman's serum indicates the presence of possible spina bifida in the fetus.
B) An appropriate time to measure AFP in maternal serum is at 16 weeks gestation when it is approximately 3.5 µg/dL.
C) An increase in AFP in a pregnant woman's serum indicates the presence of Down syndrome in the fetus.
D) AFP in maternal serum rapidly decreases to a low point at 11 weeks and then increases to reach a second maximum at 13 weeks.
Q2) In the second trimester,maternal age along with a screening serum analysis of alpha-fetoprotein,inhibin A,unconjugated estriol,chorionic gonadotropin,and which of the following are assessed as the "integrated test" testing panel for Down syndrome risk estimate?
A) Nuchal translucency (NT)and pregnancy-associated plasma protein A (PAPP-A)
B) Placental lactogen and NT
C) PAPP-A and placental lactogen
D) Estrone and PAPP-A
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Chapter 45: Newborn Screening and Inborn Errors of Metabolism
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Q1) What is the advantage of tandem mass spectrometry (MS/MS)multiplex analysis?
A) It eliminates the need for second-tier testing by providing a built-in confirmatory test.
B) Multiple metabolites are detected simultaneously in one blood sample to allow for detection of several disorders at once.
C) Tests are performed singly so a single disorder is tested for with a single specimen.
D) It allows for screening of a large number of infants not only for PKU,but also for other disorders of amino acid metabolism using different growth antagonists.
Q2) Of the following,what is the inborn error of metabolism for propionic acidemia?
A) Disorder of fatty acid oxidation
B) Aminoacidopathy
C) Organic acidemia
D) Disorder of carbohydrate metabolism
Q3) Of the following,what is the inborn error of metabolism for alkaptonuria?
A) Disorder of fatty acid oxidation
B) Aminoacidopathy
C) Organic acidemia
D) Disorder of carbohydrate metabolism
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Page 47
Chapter 46: Pharmacogenetics
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Q1) The enzyme that metabolizes 5-fluorouracil is:
A) DPD.
B) TMPT.
C) CYP2D6.
D) NAT1.
Q2) Tamoxifen is a drug that is used to prevent or treat some forms of breast cancer.Before it can have a physiological effect,tamoxifen must be metabolized to an active metabolite called endoxifen.Tamoxifen is therefore considered to be a:
A) metabolizer.
B) prodrug.
C) transferase.
D) cytochrome.
Q3) The metabolizing enzyme that catalyzes the transfer of an acetyl moiety from acetyl-CoA to homocyclic and heterocyclic arylamines and hydrazines in,for example,substrates related to cigarette smoke is:
A) CYP2C6.
B) CYP2D9.
C) NAT1.
D) UGT1A1.
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Page 48
Chapter 47: Principles of Molecular Biology
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Q1) DNA replication is referred to as semiconservative because:
A) only some DNA sequences are duplicated during the cell cycle.
B) certain amino acids can be synthesized by more than one codon.
C) newly duplicated DNA molecules are composed of one parent and one daughter strand.
D) it can only occur in the 5' to 3' direction.
Q2) The protective nucleotide sequences that are located on the end of a chromosome and make up part of constitutive heterochromatin is referred to as the:
A) centromere.
B) nucleosome
C) acromere.
D) telomere.
Q3) Which one of the following statements concerning mitochondrial DNA (mtDNA)is incorrect?
A) Pseudogenes are DNA segments that share significant homology with mtDNA.
B) mtDNA is circular and contains approximately 16,500 base pairs.
C) mtDNA is transmitted by maternal inheritance.
D) The mutation rate of mtDNA is 20 times lower than that of nuclear DNA.
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Chapter 48: Nucleic Acid Techniques and Applications
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Q1) Which one of the following statements regarding single-stranded conformational polymorphism (SSCP)analysis is incorrect?
A) SSCP is used to assess a specimen for the presence of unknown variants in a nucleic acid sequence.
B) SSCP distinguishes altered gene sequences by detecting a change in the three-dimensional structure of a piece of single-stranded DNA.
C) SSCP is a polyacrylamide gel electrophoresis procedure.
D) In SSCP,separation of a PCR product is performed with a gel that includes a concentration gradient of denaturants.
Q2) In a pyrosequencing reaction,the incorporation of a nucleotide releases _____.Eventually,visible light is produced by an enzyme reaction.
A) pyrophosphate
B) ATP
C) luciferase
D) a primer
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Chapter 49: Genomes and Nucleic Acid Alterations
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Q1) The major difference between single nucleotide variants (SNVs)and copy number variants (CNVs)is that:
A) SNVs are duplicated in tandem and involve complex gains or losses of homologous sequences,whereas CNVs involve simple sequence changes.
B) CNVs occur in stretches of DNA ranging from 100 to millions of bases in size,whereas SNVs involve single base changes.
C) SNVs are always associated with disease,whereas CNVs are not.
D) SNVs are involved in gene amplification by producing more than two functional genes in a genome.
Q2) Polymorphic repeated DNA sequences that are sometimes referred to as minisatellite sequences and are between 14 and 500 base pairs in length are called: A) transposons.
B) a variable number of tandem repeats.
C) a restriction endonuclease.
D) short tandem repeats.
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