MB ASCP Final Exam Practice Questions and Answers Part III (Already Graded A+ - 2023)

MB ASCP Final Exam Practice Questions and Answers Part III (Already Graded A+ - 2023) Neurofibromatosis 2: tumor suppressor 22q12 missense, frameshift, splice Growth regulator mutation. 66. Neurofibromatosis 1: tumor suppressor 17q11.2 missense, frameshift, splice Growth regulator mutation. 67. Patau: trisomy 13 68. Phenylketonuria: phenylalanine hydroxylase 12q24.1 , many mutations 69. Prader Willi syndrome: chromosome 15 from father 70. Prothrombin: Chromosome 11, G20210A 71. Chromosome affected in Super Y?: extra Y 72. Synovial sarcoma: fusion of SYT gene t (18, X) 73. Chromosome affected in Tay Sachs disease?: 15 Accumulation of Sphingolipids 74. TP53: tumor protein 53, caused by chromosome 17 mutation tumor suppressor (17p13) various cancers 75. T cell lymphoma: t(8;14) 76. Turners syndrome: monosomy x female missing partial or complete X 77. What is the most common gene for respiratory pathogens?: 16s rRNA 78. Oligastrocytoma: t (1, 19) 79. Sickle cell anemia: hemoglobin beta (11p15.5) missense Structural protein mutation MB (ASCP) Review & Exam Questions Part III and Answers with Complete Solutions, Graded A+ 7 / 14 80. Schizophrenia: t (1, 11) 81. Vitamin D Resistance: vitamin D receptor (12q12-q14), Point mutations 82. How many copies are in a full fragile x mutation?: 200-2000 + CGG repeats in FMR1 83. What is the gene target for bordatella pertussis (whooping cough)?: IS 481 84. Severe Combined Immunodeficiency (SCId): adenosine deaminase (20q13.11) Point mutation 85. ATM (11q22): Mutations found in neurological disease ataxia. Predisposition to Leukemia, Lymphoma, various other cancers 86. What virus affects patients after a kidney transplant?: BK virus 87. What is increased in tumor cells?: telomerase activity 88. What is the most conserved region of the HCV virus?: 5' UTR (five prime untranslated region) (region of mRNA directly upstream of initiation codon) 89. Which of these viruses can be tested by liquid based cytology? HIV HBV HCV HPV: HPV 90. Which diseases are liquid tumors?: Mantle cell lymphoma Burkitts lymphoma Acute promyelocytic leukemia 91. What type of disease is Hemophilia?: X linked 92. What gene is commonly tested for prostate cancer?: HoxB13 93. What gene is defective in hemoglinopathy?: MTHFR 94. What has a heavy T-cell receptor rearrangement?: Sezary syndrome 95. What is the allele responsible for abacavir hypersensitivity?: HLA B-5701 96. Mutations in what gene are the most common oncogene mutation in human cancers?: K-ras MB (ASCP) Review & Exam Questions Part III and Answers with Complete Solutions, Graded A+ 8 / 14 97. Donor / Recipient - what's informative loci?: no matching alleles is informative, you can tell D from R non-informative would be if both D and R matched 98. This highly polymorphic loci region is crucial in assessing immune system compatibility: HLA (human leukocyte antigen) 99. Which disorders have trinucleotide repeats?: Huntington's disease Fragile X Spinocerebellar (CAG) Ataxia type 8 100. Significant viral load for HIV?: 0.5log10 101. A viral load less than 10,000 2-8 weeks after seroconversion is a?: favorable condition 102. 3 cerebrospinal (CSF) tubes labeled 1 through 3 have arrived in your clinical lab for evaluation. The tubes were numbered in the order in which they were obtained, with #1 being the first tube collected and #3 being the last tube collected. What is the best explanation for a macroscopic appearance seen in the CSF?: traumatic tap 103. A patient is being tested for leukemia and a fusion appears on the patient sample, the positive control, and the negative control. What should be done next? Recollect sample and run again, use patient's own RNA, or test for gene rearrangement by Southern blot?: test for gene rearrangements by southern blot 104. The throat swab and a nasopharyngeal specimen from an 11 year old girl are given to you. Do you: accession both specimens under one number and run them OR do you: call and ask which one to run OR do you: give each one a separate accession number and run both: give each one a separate accession number and run both 105. The doctor sent you a patient specimen and two family members' specimens. He wants the patient specimen run for a mutation. If the patient has a mutation, run the family members specimens. If the patient specimen is negative, don't run the family specimens. Do you accession all three specimens and run all three specimens and only report the family results if the patient is positive MB (ASCP) Review & Exam Questions Part III and Answers with Complete Solutions, Graded A+ 9 / 14 OR Do you accession only the patient specimen, run it, and hold the family member specimens until you know the patient results. OR Do you accession all three and only run the patient, then decide if to run the family specimens.: Accession all three and only run the patient, then decide if you want to run the family specimens 106. Bone marrow transplantation is a great method used to treat several malignant and benign cancers, particularly leukemias. Before transplantation, several polymorphic loci are screened in both the recipient and donor cells. The main goal of this screening is to what?: find at least one or more informative loci between both the donor and recipient 107. Deletion in the paternal chromosome 15: del(15)(q11q13) results in Prader-willi syndrome. However, deletion in the same region in the maternal chromosome results in a completely different condition known as Angelman syndrome. This phenomenon is an example of what?: genomic imprinting 108. A DNA specimen was sent to your molecular diagnostics laboratory for DNA sequencing. In order to determine whether patient A has a particular mutation in gene X. The gene sequence is known. However, the gene mutation itself is not known. Therefore, DNA sequencing cannot be performed on this specimen. True or false?: True 109. A parent has an autosomal recessive (XX) (two copies of mutant gene) disorder. What percent chance does this parent have to pass down this affected gene to his/her child?: 100% 110. If two parents are heterozygous for an autosomal recessive disease, then their offspring will most likely follow this gene frequency pattern.: 25% homozygous dominant 50% heterozygous 25% homozygous recessive 111. A parent has an autosomal dominant (Xx) (one copy of mutant gene and one copy of normal gene) disorder. What percent chance does this parent have to pass down this affected gene to his/her child?: 50% 112. Which two HPV types are responsible for most cases of cervical cancer?: 16 and 18 113. What is the highest resistance gene in enterococcus?: vanA has the highest resistance MB (ASCP) Review & Exam Questions Part III and Answers with Complete Solutions, Graded A+ 10 / 14 114. Blood should be stored and transported in:: EDTA (purple top tubes) or ACD (yellow top tubes) 115. How long can blood be stored at room temperature for DNA analysis?- : 24 hours 116. How long can whole blood be at 4C before isolation?: 72 hours 117. How should whole blood be sent?: overnight in ice packs 118. Should you freeze blood or bone marrow if you are going to use it in a molecular assay?: No 119. How long to keep obsolete document in lab according to CAP checklist?: 2 years 120. How do you rid RNA from glassware?: DEPC inactivates RNAse (or bake glassware for 4-6 hours at 400C?) 121. Best condition for long term storage of RNA? (6 mo): -70C ethanol 122. For long term storage, what should you store DNA in?: EtOH 123. What is the best temperature to store DNA?: Long term = -70* short term = -20* 124. Best method listed to collect bone marrow specimens?: EDTA or ACD tubes EDTA is more common? 125. What best characterizes a vector?: helps carry genetic material into cell (plasmids/virus) 126. What are sources of DNA damage?: chemical damage water damage radiation damage 127. If you break a phenol bottle, what should you do?: check MSDS and then use spill kit 128. How long until a technologist is required to update their CEs?: 1 year 129. What is important in the final lab report in CLIA?: the lab director signature? 130. What is a proto-oncogene?: normal gene found in the cell that is responsible for making a protein involved in cell growth, division, and other processes in the cell. MB (ASCP) Review & Exam Questions Part III and Answers with Complete Solutions, Graded A+ 11 / 14 If an error (mutation) occurs in a proto-oncogene, the gene can become turned on when isn't supposed to be turned on. If this happens, the proto-oncogene can turn into a malfunctioning gene called an oncogene. Cells will start to grow out of control. Uncontrollable cell growth leads to cancer. 131. What is an IQCP?: individualized quality control plan. It allows labs to develop their own QC for their unique procedures. 132. What is the optimum storage condition for any specimen (whole blood, bone marrow, tissue, awaiting RNA extraction): Remove contaminating RBCs and then immediately freeze at -20C 133. What disease is known for numerous mutations and large deletions?: - Muscular dystrophy (duchenne) 134. What sample type would you expect degraded DNA from?: FFPE (formalin-fixed paraffin-embedded) tissue 135. This is a single stranded RNA virus: HCV, HIV 136. This is a single stranded DNA virus: Parvovirus 137. A robertsonian translocation may be associated with which genetic disorder?: down syndrome 138. What virus is prevalent in post-transplant lymphoproliferative disorder?: EBV 139. Why is it critical to maintain workflow from "clean" to "dirty" while working in a molecular lab?: to avoid contamination of specimens with amplified product which can create false positive results 140. What is the optimal storage option for storing isolated DNA for periods greater than seven years?: -70 C 141. How often should a competency be done for someone in a complex lab?: annually 142. A cerebrospinal fluid (CSF) sample for hematologic evaluation should be tested within how many hours of collection?: 1 hour 143. What agency verifies thermal devices?: NIST (national institute of standards and technology) 144. This is associated with an increased risk of stevens-johnson syndrome and toxic epidermal necrolysis in response to carbamazepine treatment (anticonvulsant): HLA-B*15:02 allele