MFM Molecular Test 3 Practice

These questions are part of the practice quiz. Start practicing

• What is the standard trade-off when using broader multi-gene panels?
• Which of the following best defines analytical validity in a prenatal sequencing assay?
• What are the main water-hydrated components of the ECM?
• Compare karyotype, chromosomal microarray, and exome sequencing as prenatal tests in terms of what abnormalities they detect (aneuploidy, CNVs, single-gene disorders).
• Which molecule on endothelial cells binds leukocyte integrins to mediate firm adhesion?
• What does the intracellular domain of integrins interact with?
• What is the recommended next step when a prenatal test result is inconclusive or discordant with ultrasound findings?
• Type III collagen is mainly found in which tissue?
• What role does fibronectin play in embryogenesis?
• L-selectin is primarily expressed on which cells?
• Where is E-cadherin found?
• Which CAMs are calcium-independent?
• About what percentage of collagen is Type I?
• Type I collagen is mainly found in which tissue?
• What do desmosomes act like between epithelial cells?
• Which LAD type has a defect in beta integrin?
• Why can tissue-source mosaicism lead to discordant prenatal sequencing results between CVS and amniotic fluid samples?
• What are the two basic structural forms of the extracellular matrix (ECM)?
• What are the major ethical considerations surrounding prenatal exome or genome sequencing?
• In the extracellular matrix, which molecule binds to collagen and integrins?
• The intracellular interactions of integrins link to what cellular structure?
• What vitamin deficiency causes scurvy?
• What do fibroblasts do in connective tissue ECM?
• Which structures anchor epithelial cells to the extracellular matrix?
• Type II collagen is predominantly located in which tissue?
• What is the overall goal of combining multiple specialties in prenatal molecular testing?
• What is variant annotation and why is it essential for clinical interpretation?
• Explain the concept of read-backed phasing and why phasing matters in compound heterozygous interpretations.
• Which scenario can lead to a false-positive NIPT result due to placental factors?
• Cadherin adhesion is dependent on which ion?
• Desmosomes primarily mediate adhesion between what?
• What do fibroblasts secrete?
• Which prenatal test is primarily used to detect single-gene disorders?
• What tissues especially depend on desmosomes?
• The main structural protein in bone and tendon is which collagen type?
• P-cadherin is primarily found in which tissues?
• Why is confirmatory diagnostic testing recommended after a positive NIPT result for chromosomal abnormalities?
• What do fibronectin, laminin, and integrin help do?
• A major function of water-hydrated ECM components is what?
• Which selectin is typically located on endothelial cells?
• What causes firm leukocyte adhesion?
• What amino acid is typically in the X position of collagen?
• What is the purpose of reference controls in sequencing assays, and how are they selected?
• COL1A1 and COL1A2 encode chains of which collagen type?
• Bullous pemphigoid autoantibodies predominantly target proteins located in which structure?
• The multidisciplinary approach in prenatal molecular testing is intended to optimize patient care by coordinating ...
• How does corroborating evidence influence CNV interpretation?
• Which adhesion molecule family primarily mediates firm adhesion by binding vascular ICAMs?
• Integrins connect the inside of the cell to outside structures via which cytoskeletal element?
• Which of the following is not a major family of cell adhesion molecules?
• Which database is commonly used to assess population frequency of genetic variants in rare diseases?
• Hyaluronic acid helps resist
• Proteoglycans are formed by sulfated GAGs covalently attached to what?
• Which prenatal test is most capable of detecting submicroscopic copy-number variations (CNVs)?
• What is the role of chromosomal microarray in prenatal diagnosis, and what are its limitations?
• Which statement describes the basement membrane?
• Which statement best describes the differences among targeted gene panels, whole-exome sequencing, and whole-genome sequencing in fetal medicine?
• Which protein forms the scaffold for laying down tropoelastin?
• What does the ECM provide for cellular components?
• Which statement best describes multidisciplinary discussion in prenatal molecular testing?
• Which of the following can pass through gap junctions?
• How can maternal contamination be detected in fetal tissue samples, and what steps are taken to minimize it?
• How are ECM components secreted?
• What differentiates first-trimester NIPT from second-trimester cfDNA testing in terms of goals and timing?
• Glycosaminoglycans (GAGs) are best described as
• Which statement best characterizes desmosomes?
• Which CAM is mainly involved in cell-matrix adhesion?
• In next-generation sequencing, what do depth of coverage and breadth of coverage mean, and why are they important for diagnostic accuracy?
• How would you interpret a fetal sequencing result showing a homozygous pathogenic variant with no parental data?
• How should incidental findings be handled in prenatal sequencing, and what consent-related policies govern reporting?
• In CNV analysis from sequencing data, what is read-depth normalization and why is it used?
• Which statement correctly identifies at least one non-collagen ECM component?
• Which domain is explicitly included in multidisciplinary prenatal testing discussions to optimize patient care?
• An adherens junction connects which cytoskeletal component between neighboring cells?
• How is the ECM of cartilage specialized?
• Desmosomes are defined as what type of junction?
• Which feature gives cartilage extracellular matrix its compression-resistant property?
• Distinguish between a copy-number variant detected by microarray and a single-nucleotide variant detected by sequencing in terms of resolution and clinical implications.
• Which field contributes computational analysis and data interpretation in prenatal testing discussions?
• Which ECM component provides elasticity?
• ECM cues influence cellular processes including tissue morphogenesis, differentiation, and what?
• Which tissue does NOT commonly contain Type I collagen?
• Define positive predictive value and negative predictive value and explain how disease prevalence affects them in prenatal testing.
• What is a 'hard stop' in sequencing data analysis and when is it used?
• Which pairing correctly matches a disease with its associated molecule?
• Which of the following is NOT a feature of LAD-I?
• Which three molecules are identified as the major adhesive glycoproteins and receptors of the ECM?
• Which statement about parental testing in prenatal sequencing is most accurate?
• What is characteristic of tendon ECM?
• Where are tight junctions usually located?
• What is the role of quality control proficiency testing in molecular diagnostics and how is success measured?
• What are the major fibrous structural proteins of the ECM?
• What is the difference between base quality score and mapping quality in sequencing data, and why are both important?
• Which cells especially use gap junctions for electrical communication?
• In SMA testing, why is SMN1 copy number critical and what challenges arise distinguishing SMN1 from SMN2?
• Which collagen type is predominantly found in arteries?
• Define allele balance and explain how it helps distinguish true heterozygous variants from sequencing artifacts.
• What transport do tight junctions prevent?
• Which combination of disciplines is explicitly mentioned as integrating to optimize patient care in prenatal molecular testing?
• Which CAMs are mainly involved in cell-cell adhesion?
• Which cell type is the primary producer of ECM?
• Which professionals are identified as essential participants in a multidisciplinary prenatal molecular testing discussion?
• Hyaluronic acid in development acts as space filler and promotes what?
• What does the ECM help control in cells?
• Which molecule acts as a receptor mediating cell-ECM adhesion?
• Hemidesmosomes are associated with which cytoskeletal filament?
• In sequencing, what does the limit of detection (LOD) describe, and how can it affect detection of mosaic variants?
• In morphogenesis, hyaluronic acid plays which role?
• What is the typical follow-up after a positive NIPT result?
• In the leukocyte migration cascade, which statement best describes the role of selectins?
• What are the four major families of cell adhesion molecules?
• Which pairing correctly matches disease to targeted structure?
• How should a case with conflicting evidence for a variant classification be handled in a prenatal report?
• What is the repeating amino acid sequence in collagen?
• What is preimplantation genetic testing (PGT) and its relevance to maternal-fetal medicine?
• Define mosaicism and explain how maternal or fetal mosaicism impacts interpretation of prenatal sequencing results.
• Which factors determine whether a CNV is classified as pathogenic, likely pathogenic, or VOUS in prenatal CMA?
• How does fetal fraction influence NIPT reliability, and what is a commonly used minimum fetal fraction threshold for reporting?
• Which statement best describes integrins?
• Which metrics are typically reported for noninvasive prenatal testing (NIPT) results?
• Which molecules are known to mediate adhesion to laminin and fibronectin?
• Where are desmosomes located on a cell?
• How do balanced rearrangements differ from unbalanced CNVs, and why might CMA miss balanced rearrangements?
• In collagen, which amino acid is typically found at the Y position in the repeating sequence?
• What is allelic dropout and how can it bias genotyping results in prenatal PCR tests?
• Marfan syndrome is caused by mutations in which protein?
• Which disease presents blistering at the dermal-epidermal junction?
• What type of proteins are integrins?
• Which collagen type is primarily located in basement membranes?
• Which caveat should accompany SNV zygosity interpretation in prenatal testing?
• Which amino acid is most commonly found in the X position of collagen?
• Which structure anchors basal keratinocytes to the basement membrane?
• Which set correctly lists the three major types of junctional complexes?
• What does the ECM help maintain through cellular interactions?
• What ACMG/AMP evidence categories are used to classify a variant as pathogenic, and how are they integrated in prenatal reporting?
• In pemphigus vulgaris, autoantibodies target which epidermal structure?
• The ECM of tendons is best described as having:
• Which processes depend on biochemical cues from the ECM?
• In pemphigus vulgaris, disruption of desmosomes leads to which condition?
• Which factor is NOT typically addressed by read-depth normalization in CNV analysis?
• What is an incidental finding in the context of genetic testing?
• Which statement about Type I collagen's role or prevalence is correct?
• Which amino acid is the first in every collagen triplet?
• List common causes of false-positive and false-negative NIPT results and a brief mitigation strategy for each.
• Which team member is not listed as part of the multidisciplinary approach in prenatal molecular testing?
• In a prenatal sequencing report, how is zygosity typically described for SNVs, and what caveats should accompany this interpretation?
• Define analytical sensitivity and analytical specificity in the context of a prenatal molecular assay and provide a clinical example for each.
• How is the ECM of bone specialized?
• Why is haplotype analysis sometimes used in prenatal testing for certain CFTR or SMA mutations?
• What are the major adhesive glycoproteins and receptors of the ECM?
• E-selectin is found on which cell type?
• What molecule helps hemidesmosomes connect cells to the basal lamina?
• Why is population frequency data essential in variant interpretation, and which resources are commonly used?
• Which statement about de novo variants in prenatal testing is most accurate?
• What role do Ig-like CAMs play?
• Chromosomal microarray in prenatal testing is primarily used to detect which type of genetic variation?
• What is the main function of tight junctions?
• In bullous pemphigoid, autoantibody attacks at which zone?
• Which of the following is NOT typically included in NIPT reporting metrics?
• What is the defining feature of droplet digital PCR (ddPCR) that makes it advantageous for copy-number analysis?
• What property do collagen, elastin, and fibrillin collectively provide to connective tissues?
• Pemphigus vulgaris blister location?
• Which structure is targeted by autoantibodies in pemphigus vulgaris?
• What is the role of a reference gene in quantitative PCR for copy-number analysis?
• In the context of prenatal molecular testing, which specialists should be involved?
• Type IV collagen is primarily located in which structure?
• Which molecules are responsible for weak rolling adhesion of leukocytes?
• What is a hemidesmosome?
• What is the key difference between single-gene panels and multi-gene panels in genetic testing?
• Which four major collagen types are emphasized in the lecture?
• What amino acid is the first amino acid in each collagen triplet?
• Acantholysis is most closely associated with which disease?
• Which histologic feature is characteristic of pemphigus vulgaris?
• Which process describes the secretion of ECM components by fibroblasts?
• What is the main function of gap junctions?
• What is a major mechanical function of the ECM?
• Proteoglycans are formed when GAG chains attach to
• What are the major steps of leukocyte migration into tissue?
• Which sequencing approach has the broadest genomic coverage and highest potential for incidental findings, requiring careful consent and reporting policies?
• Proteoglycans are made of
• What are the typical sample types used in prenatal molecular testing, and what information does each provide?
• In quantitative PCR, how does the cycle threshold (Ct) relate to the starting copy number?
• P-selectin is found on which cell types?
• Which collagen type is primarily located in the basement membrane?
• What genes are commonly associated with osteogenesis imperfecta?
• Which of the following pre-analytic factors influence the accuracy of maternal plasma cell-free DNA testing for fetal aneuploidy, and how can they be controlled?
• Why is involving lab science specialists in these discussions important?
• Which CAM type is most associated with cell-cell adhesion in epithelial tissue?
• Where is N-cadherin found?
• What role does the extracellular matrix play in tissue renewal?
• What factor influences the likelihood of incidental findings in prenatal sequencing?
• Where is the interstitial matrix found?
• Which collagen type is primarily found in cartilage?
• A major function of proteoglycans is to
• What is a variant of uncertain significance (VUS) and what is the recommended clinical approach when encountered in a prenatal test?
• In prenatal molecular testing, which domain helps translate genetic and molecular findings into clinical decisions?
• Which tissue contains high amounts of elastin?
• Which LAD type lacks a selectin ligand?
• What molecule mediates leukocyte passage between endothelial cells?
• How does the presence of maternal CNVs interfere with NIPT interpretation and what strategies mitigate this issue?
• GAGs are negatively charged; what do they attract?
• Which LAD type has defective beta-integrin activation?
• What can the extracellular domain of integrins bind?
• Elastin is most important for which property in tissues where it is abundant?
• Which component provides resistance to compression in cartilage?
• What is the most common type of collagen?
• Which CAM family is primarily associated with immune system functions?
• What is the primary purpose of multidisciplinary discussion in prenatal molecular testing?
• What do hemidesmosomes connect cells to?
• Which CAMs are calcium-dependent?
• Why is ECM integrity important for tissue regeneration?
• Desmosomes contribute to mechanical strength in which tissues?
• How do you distinguish between a de novo pathogenic variant and an inherited variant in prenatal testing, and why is parental testing important?
• Which discipline is responsible for data interpretation of high-throughput sequencing and other molecular data in prenatal testing?
• The cushioning function of GAGs is due to their ability to
• Which junction type forms a barrier to prevent lateral diffusion of substances between cells?
• Bullous pemphigoid autoantibodies predominantly target which structure?
• Laminin is a major component of which structure?
• Fibronectin binds to
• What is a pseudogene and how can it complicate sequencing and CNV interpretation?
• Delayed umbilical cord separation is a clinical finding of LAD-I.
• What is the main function of selectins?
• Which cell type is the main producer of ECM in connective tissue?
• What is a key advantage of ddPCR over qPCR for copy-number analysis?
• Cadherins typically mediate what type of binding between cells?
• In prenatal molecular testing, what does the analytical limit of detection refer to?
• What type of adhesion molecules are cadherins?
• In cartilage, proteoglycans provide resistance to
• Which of the following is not among the major fibrous structural proteins of the ECM?
• Which ECM component is a fibrous protein providing tensile strength?
• What are other major components of the ECM?
• What considerations guide the use of diagnostic tests (CVS/amniocentesis) versus non-invasive screening in suspected fetal genetic disease?
• L-selectin is primarily expressed on which cells?
• How should a prenatal sequencing report remain clinically actionable while reporting uncertain results?
• GAGs bind water because of their
• Which disorder involves defective collagen synthesis or processing and causes hyperextensible skin and joint hypermobility?
• Without calcium, cadherin adhesion is affected how?
• Bullous pemphigoid blister location?
• What two subunits make up integrins?
• What is the basement membrane?
• How does confined placental mosaicism affect interpretation of NIPT results and what confirmatory testing is recommended?
• What are the major clinical findings of LAD-I?
• How does inheritance pattern influence CNV interpretation in prenatal testing?
• In CNV interpretation, what does VOUS stand for?
• In ACMG variant classification, what are the PS3 and BS3 criteria, and how might they apply to a prenatal finding?
• Desmosomes are linked to which cytoskeletal element?
• What is a key outcome of multidisciplinary discussion for prenatal testing?
• What protein is mutated in Marfan syndrome?
• Which junction provides direct electrical coupling between cells?
• What is the role of bioinformatics in prenatal molecular testing discussions?
• Which statement correctly describes the scope of whole-exome sequencing compared to whole-genome sequencing?
• What is a major protein component of the ECM?
• What criteria are used to validate a new prenatal sequencing assay?
• Which statement about Ehlers-Danlos syndrome is true?
• P-selectin is found on which cell types?