Foundations of Clinical Genetics Practice Test

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• What is a diploid zygote?
• Which option correctly pairs a phase with its key event?
• Why is pre-test counseling considered essential in hereditary cancer testing workflow?
• Which statement signals the start of translation?
• Which statement correctly describes the genetic code?
• Which statement best describes a de novo mutation and its impact on recurrence risk when there is no family history?
• How does DNA control genes?
• Functional studies that support reclassification of a variant of uncertain significance (VUS) primarily demonstrate what?
• In a family with a de novo pathogenic variant and no family history, what is the recurrence risk for future siblings?
• What is a codon?
• In noninvasive prenatal testing, what determines the positive predictive value?
• Which statement best describes noninvasive prenatal testing (NIPT)?
• What is the clinical significance of mitochondrial DNA variants and heteroplasmy distribution across tissues?
• What does DNA expression do?
• What is germline mosaicism, and how does it affect recurrence risk?
• Which statement about VNTRs and STRs is true?
• What is the ACMG/AMP framework for variant classification, and what are the major evidence categories?
• What is the difference between targeted testing and panel sequencing, and when is each used?
• If a parent has a heterozygous pathogenic variant for an autosomal dominant disorder with full penetrance, what is the probability that each child inherits the variant?
• What are the three components of DNA?
• What is a founder variant, and why does it matter for population-specific carrier screening?
• What is DNA?
• If 60 out of 80 individuals who carry a pathogenic variant show the phenotype, penetrance is what percent?
• What is the process of transcription?
• How do meiosis-produced cells differ from those produced by mitosis?
• If a genetic test is negative but clinical suspicion is strong, which statement is true?
• During meiosis, how many haploid cells result from one parent cell?
• Meiosis II is...
• Which method uses depth-of-coverage analysis in sequencing to detect copy number variations?
• How many different amino acids exist?
• What is a gene?
• What is the purpose and implementation of newborn screening panels?
• Crossing over refers to...
• How many divisions occur in meiosis?
• Which statement correctly describes Interphase?
• How do exome and genome sequencing differ in reporting incidental findings?
• Which element should be included to communicate the clinical reason for testing?
• Cascade testing in hereditary genetics is best described as testing which group?
• Compare karyotype and CMA in prenatal testing: what does each detect?
• What is genomic imprinting, and how does parental origin influence phenotype?
• What is the 59-gene ACMG list, and why is it debated in reporting?
• What is a Single Nucleotide Polymorphism (SNP)?
• How does oogenesis differ from spermatogenesis?
• In Lynch syndrome gynecologic risk management may include risk-reducing surgery.
• What does VNTR stand for?
• What is a variant of uncertain significance (VUS), and how should it be managed clinically?
• Copy number variation (CNV) refers to deletions or duplications of DNA segments. Which testing methods detect CNVs?
• What are chromosomes?
• Mitosis yields what?
• Which term correctly describes germ cells?
• Which statement differentiates VNTRs from STRs regarding length?
• Meiosis I is...
• What is the difference between diagnostic yield and clinical utility?
• Oogenesis yields three polar bodies
• What is uniparental disomy, and what conditions can result from it?
• In X-linked dominant inheritance, if the father is affected and the mother is unaffected, what is the expected distribution among sons and daughters?
• What is the role of mismatch repair deficiency testing in Lynch syndrome evaluation?
• What term is used for the physical location of a gene?
• During oogenesis, at what stage are oocytes suspended until sexual maturity?
• Which statement about somatic cells is true?
• Tandem repeat polymorphisms can contribute to phenotypic variation.
• Which statement correctly contrasts meiosis and mitosis?
• Which statement best distinguishes somatic mosaicism from germline mosaicism?
• Which element discusses inheritance patterns and cascade testing considerations?
• Which process occurs during Interphase?
• Which base pairs with cytosine in DNA?
• In X-linked dominant inheritance, if the father is affected and the mother is unaffected, what is the expected distribution among offspring?
• Which statement about the function of RNA polymerase is correct?
• Which sequencing approach tends to yield more incidental findings due to broad data?
• Replication bubbles describe which concept?
• Which event occurs during Telophase?
• Which statement about distinguishing targeted mutation testing from diagnostic sequencing is correct?
• Which base pairs with adenine in DNA?
• Define gene expression.
• Which statement describes the impact of a founder variant on screening strategies?
• What are alleles?
• What is the clinical approach when a VUS is observed in a patient with a classic phenotype and supportive family history?
• Which gene set is most commonly associated with Lynch syndrome?
• What is the role of mRNA in protein synthesis?
• Which element focuses on categorizing variants as pathogenic, likely pathogenic, VUS, benign?
• Which element provides the clinical significance of detected genetic findings?
• In Telophase, which event occurs?
• Which element addresses the potential impact on family members and inheritance risk?
• What is a key ethical consideration when reporting incidental findings from genome sequencing?
• Which modification is added to the 3' end of mRNA during processing?
• Short Tandem Repeats (STRs) are described as:
• Which of the following defines polymorphisms?
• In humans, how many autosome pairs and sex chromosome pairs are there?
• Which statement defines gene expression?
• Which element is primarily used to justify why the test was ordered?
• Lynch syndrome is most strongly associated with which cancers?
• Which event contributes to genetic variation during meiosis?
• What is the significance of base pairing in DNA?
• Which element addresses the impact of results on family members and inheritance risk?
• Which base pairs with thymine in DNA?
• Which statement about Interphase is NOT true?
• Which phase immediately follows Metaphase?
• What is a typical genetic testing workflow for a patient with suspected hereditary cancer syndrome?
• Which element ensures that the report details the laboratory techniques and computational analyses used?
• What is a typical cancer surveillance approach for individuals with Lynch syndrome starting in early adulthood?
• Which test would best detect a balanced chromosomal rearrangement among prenatal tests?
• What is the difference between homozygous and heterozygous alleles?
• What is the role of ribosomes in protein synthesis?
• VNTRs and STRs are examples of which type?
• What are polymorphisms?
• How do mutations affect proteins?
• What does the start codon do in translation?
• Which statement describes modifications to mRNA before it leaves the nucleus?
• Meiosis yields haploid
• Eye Color example: Which describes an allele?
• Which element discusses the uncertainties or limitations of the test results?
• During processing of mRNA, which parts are removed and which are spliced together?
• BRCA1/2 testing, and management options recommended for carriers?
• Which process does the mnemonic Please Make Another Two help remember?
• What is the difference between expression and expressivity?
• What is the primary benefit of sequencing a proband and both parents in a genetic test (a trio)?
• What is TPMT testing, and why is it clinically relevant?
• What is copy number variation (CNV)?
• Which statement best describes SNPs?
• During which stage do homologous chromosomes separate?
• Which statement best describes alleles in terms of phenotype?
• In the context of newborn screening, which condition characteristics define treatable conditions to be included in panels?
• How do prenatal testing and postnatal testing differ?
• What is translation?
• Which element explains whether a detected variant is pathogenic or benign?
• 3' and 5' ends significance?
• Which statement best describes DNA replication?
• Which element should specify future actions after result release, such as surveillance or referral?
• During Prophase, which events occur?
• What is a codon a sequence of?
• Which statement about RNA nucleotides is correct?
• How consistent are guidelines regarding actionability of genetic findings?
• What is the difference between incidental findings and primary diagnostic results in genetic testing?
• What does the term 'multigene panel' refer to in genetic testing?
• Why is population allele frequency important in variant classification, and which database is commonly used?
• In autosomal recessive inheritance, if both parents are carriers, what is the risk per pregnancy that a sibling is affected?
• In X-linked recessive inheritance, if the mother is a carrier and the father is unaffected, what are the risks per pregnancy for a son to be affected and a daughter to be a carrier?
• Which statement describes exons?
• Which statement best describes cascade testing and its efficiency for identifying at‑risk relatives?
• What does 'actionable variant' mean in the context of clinically actionable genes?
• What is the role of DNA in protein synthesis?
• RNA processing yields mature mRNA by which processes?
• In pediatric genetics, what is the typical approach to returning secondary/incidental findings that are adult-onset?
• What is the difference between penetrance and expressivity, and how do they affect the clinical presentation of an autosomal dominant disorder?
• Which statement best describes targeted mutation testing?
• Under what circumstances is predictive genetic testing in children generally considered ethically appropriate?
• What are the two main functions of DNA?
• What are single nucleotide polymorphisms (SNPs)?
• What is the mnemonic used for mitosis stages?
• Why might testing in blood miss somatic mosaicism?
• What is the role of the 5' cap and poly(A) tail in mRNA?
• What is the clinical utility of pharmacogenomics in the context of antidepressants or oncology?
• RNA processing includes which steps?
• BRCA1/2 testing is typically indicated for individuals with which history?
• Which processes are key to inheritance?
• Which of the following describes stop codons?
• What constitutes an actionable genetic finding, and how is actionability assessed?
• What are gametes?
• Which element should be included to communicate the reason for genetic testing?
• Which statement accurately describes a difference between DNA and RNA?
• Expressivity refers to what aspect of a genetic disorder?
• What is the role of tRNA in translation?
• What best describes diploid cells?
• Which element describes how the genetic analysis was performed?
• What best describes haploid cells?
• Which element helps clinicians understand the context in which results should be interpreted?
• Which statement best describes how Sanger sequencing differs from next generation sequencing (NGS)?
• What is the difference between whole exome sequencing (WES) and whole genome sequencing (WGS), and when is each used?
• Which statement about amino acids is true?
• Where are the nitrogenous bases located in DNA?
• VNTRs and STRs are examples of which type of polymorphism?
• Gametogenesis is defined as...
• In cascade testing, which relative is typically tested first?
• Which event occurs last in cell division?
• What is the end product of meiosis in terms of chromosome number and genetic content?
• Name two imprinting disorders affecting neurodevelopment and their genetic basis.
• How does depth of sequencing influence detection of mosaicism and low-level CNVs in NGS data?
• Which event characterizes anaphase of mitosis?
• In trio testing, which type of genetic variant is most readily identified?
• What is oogenesis?
• Which of the following correctly describes introns and exons?
• In autosomal dominant diseases with incomplete penetrance, which statement best describes recurrence risk counseling?
• What is the mechanism of genomic imprinting, and name two imprinting disorders?
• What is spermatogenesis?
• What is the structure of DNA?
• Consanguinity increases the risk of autosomal recessive disorders in offspring by doing what?
• Name two imprinting disorders.
• Which term describes the degree to which a phenotype is expressed among individuals with the same genotype?
• Which statement about Interphase is true?
• How does maternal versus paternal inheritance influence the presentation of mitochondrial disease?