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Free CBGC Certification Examination Practice Questions

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Sample Practice Questions

Try these 10 sample questions from the CBGC Certification Examination practice bank. Each includes the answer and explanation. Continue with the interactive practice above to review the full question set.

  1. 1During counselling for a dominant disorder, a woman has the same pathogenic variant as her affected father but has no features at age 60, beyond the usual age of onset. Which concept describes this observation?

    1. A.Variable expressivity
    2. B.Reduced penetranceCorrect answer: B
    3. C.Genetic anticipation
    4. D.Locus heterogeneity

    Explanation: MedlinePlus states, "If some people with the variant do not develop features of the disorder, the condition is said to have reduced (or incomplete) penetrance." The woman carries the variant without developing the phenotype; expressivity concerns differences among affected people.

    Reference: MedlinePlus Genetics: Penetrance and expressivity — Reduced penetrance

  2. 2A patient has ectopia lentis, disproportionately long limbs and progressive aortic enlargement. The counsellor is discussing molecular confirmation of suspected Marfan syndrome. Which gene is the principal target?

    1. A.FBN1Correct answer: A
    2. B.CFTR
    3. C.DMD
    4. D.HTT

    Explanation: MedlinePlus states, "Mutations in the FBN1 gene cause Marfan syndrome." The combination of lens dislocation and aortic disease is characteristic; CFTR, DMD and HTT underlie different genetic disorders.

    Reference: MedlinePlus Genetics: Marfan syndrome — Causes

  3. 3A laboratory identifies deletion of one nucleotide near the start of a protein-coding exon, with no compensating change. What effect on translation is expected downstream of the deletion?

    1. A.Replacement of one amino acid with preservation of the reading frame
    2. B.Reversal of a DNA segment with preservation of its nucleotide content
    3. C.Shift of the reading frame with alteration of downstream amino acidsCorrect answer: C
    4. D.Removal of one complete codon with preservation of the reading frame

    Explanation: MedlinePlus states that a frameshift "shifts the grouping and changes the code for all downstream amino acids." Losing one nucleotide disrupts triplet grouping; it is not an in-frame three-base deletion, substitution or inversion.

    Reference: MedlinePlus Genetics: Types of gene variants — Frameshift

  4. 4A couple with recurrent pregnancy loss has a normal chromosomal microarray. A balanced chromosome rearrangement is still suspected. Which investigation can directly assess that possibility?

    1. A.Conventional G-banded karyotypeCorrect answer: A
    2. B.Targeted exon dosage analysis
    3. C.Repeat chromosomal copy-number array
    4. D.Targeted single-nucleotide sequencing

    Explanation: NHS England explains that karyotyping "is able to detect balanced rearrangements" and provides chromosome positional information. A copy-neutral rearrangement may be missed by dosage arrays and is not established by targeted exon or base analysis.

    Reference: NHS England Genomics Education: Karyotype — Clinical applications

  5. 5While reviewing a metabolic pathway, a counsellor notes that its accumulated end product inhibits an enzyme catalysing an earlier step. Which regulatory process limits further synthesis of that product?

    1. A.Feedback inhibitionCorrect answer: A
    2. B.Cofactor activation
    3. C.Substrate induction
    4. D.Positive feedback

    Explanation: OpenStax states, "Feedback inhibition involves using a reaction product to regulate its own further production". Inhibiting an upstream enzyme when product is abundant slows the pathway. Cofactor activation, substrate induction and positive feedback instead promote activity or production.

    Reference: OpenStax Biology 2e — 6.5, Feedback Inhibition in Metabolic Pathways

  6. 6A tumour contains an activating change in a gene that normally promotes regulated cell growth. The altered gene now drives excessive growth signalling. Which description fits this oncogenic mechanism?

    1. A.Loss of both copies of a growth-inhibiting gene
    2. B.Increased activity of a proto-oncogeneCorrect answer: B
    3. C.Reduced activity of a nucleotide mismatch repair gene
    4. D.Loss of one copy of a chromosome-segregation gene

    Explanation: NCI states that proto-oncogenes altered or "more active than normal" may become oncogenes. This is activation of growth promotion, rather than loss of growth restraint, repair or chromosome segregation.

    Reference: NCI: What Is Cancer? — Types of Genes that Cause Cancer

  7. 7During an Ontario newborn screening discussion, parents ask how the routine dried blood spot specimen is obtained. Which collection method is used?

    1. A.Venous blood collected into a heparin tube
    2. B.Saliva collected into a stabilising tube
    3. C.Heel blood applied to a newborn screening cardCorrect answer: C
    4. D.Buccal cells collected onto a sterile swab

    Explanation: Newborn Screening Ontario states, "A small sample of blood, called a dried blood spot (DBS), is taken from the baby’s heel and spotted onto a special newborn screening card." The other specimen methods are used for other laboratory tests.

    Reference: Newborn Screening Ontario: Dried Blood Spot — What to expect

  8. 8A pregnant patient chooses chorionic villus sampling for an indicated diagnostic genetic test. Which tissue is sampled by this procedure?

    1. A.Maternal peripheral blood
    2. B.Amniotic fluid
    3. C.Fetal umbilical blood
    4. D.Placental villus tissueCorrect answer: D

    Explanation: MedlinePlus states that CVS checks chorionic villus cells, which "are found in the placenta". CVS obtains placental tissue, rather than the other specimens used in prenatal investigations.

    Reference: MedlinePlus Medical Tests: Chorionic Villus Sampling — What is chorionic villus sampling?

  9. 9An adult consented to predictive genetic testing and had blood collected, but contacts the counsellor before analysis to withdraw consent. What should the counsellor do?

    1. A.Arrange another counselling visit before forwarding the withdrawal to the testing team.
    2. B.Obtain a new signed withdrawal form before asking the laboratory to pause analysis.
    3. C.Seek approval from the referring clinician before notifying the laboratory of withdrawal.
    4. D.Notify the testing team and honour the adult’s decision to stop.Correct answer: D

    Explanation: MedlinePlus states, "A person may choose not to go through with genetic testing even after the test sample has been collected." The adult has withdrawn before analysis, so notifying the testing team allows that decision to be honoured. Arranging another visit, obtaining additional paperwork or seeking referrer approval should not postpone telling the team to stop.

    Reference: MedlinePlus Genetics: Informed consent — Changing a decision

  10. 10A sequencing report notes that a read may have aligned to a pseudogene resembling the disease gene. Which property of that sequence explains this concern?

    1. A.It resembles the gene but lacks protein-coding capability.Correct answer: A
    2. B.It precedes the gene and recruits transcription machinery.
    3. C.It interrupts the gene and is removed from mature mRNA.
    4. D.It encodes the gene product and specifies its amino acids.

    Explanation: NHGRI defines a pseudogene as "a segment of DNA that structurally resembles a gene but is not capable of coding for a protein." Sequence similarity can complicate alignment. The competing descriptions concern promoters, introns and coding sequences.

    Reference: NHGRI Talking Glossary of Genomic and Genetic Terms — Pseudogene

Exam Review

About CBGC Certification Examination

CBGC Certification Examination · CA

Key exam facts

Provider
Canadian Board of Genetic Counselling (CBGC), certification/examination authority; Yardstick Inc., computer-based hosting and proctoring provider.
Format
Computer-based multiple-choice examination, available in English and French on one platform; the 2027 examination is online and remotely proctored.
Time limit
Three hours of examination time, with no scheduled break; extra time is not granted for switching languages.
Passing score
Set for each examination using a modified Angoff method, with post-examination psychometric review; passing scores typically range from 70% to 75%, not a guaranteed fixed cut score.
Exam fee
Official fees are labelled with '$' without an explicit currency code on the fee page. Pathways A/C/D: $155 application + $725 administration/examination = $880 total ($830 early bird). Pathway B: $315 + $725 = $1040 ($990 early bird). Re-write or recertification by examination: $725 ($675 early bird). Writing after a deferral: $105 ($80 early bird). Early bird: October 1–31; full fees from November 1. Fees subject to change.

Topics covered

  • Unit 1: Epidemiology, Population, and Basic Human Genetics

    • Understand, define and give examples of basic genetic concepts. Examples include but are not limited to heterogeneity, phenocopy, genocopy and pseudogene.
    • Understand basic cellular biology concepts. Examples include but not limited to transcription, translation, mitosis, meiosis and gametogenesis.
    • Understand the principles of Mendel's laws and recognize the different patterns of single - gene inheritance.
    • Understand non-Mendelian modes of inheritance. Examples include but are not limited to genomic imprinting, uniparental disomy and mitochondrial inheritance.
    • Understand and apply concepts of complex inheritance. Examples include but are not limited to multifactorial inheritance, heritability, epigenetics, and threshold models.
    • Understand the concepts regarding genetic changes. Examples include but are not limited to somatic vs germline mutation, mutation vs. polymorphism, new mutation rate and copy number variants.
    • Understand population genetics concepts. Examples include but are not limited to heterozygote advantage, genetic drift, Hardy-Weinberg equilibrium and founder effect.
    • Understand the association between fitness and natural selection and identify factors which increase or decrease fitness in an individual or a population.
    • Understand clinical research study designs. Be able to critically evaluate research based on factors such as: study limitations, bias, sample size and statistical analysis.
    • Understand basic statistical concepts. Examples include but are not limited to detection rate, sensitivity, specificity and positive predictive value.

  • Unit 2: Clinical Genetics

    • Understand the etiology, clinical features, testing and management of well-defined genetic conditions.
    • Understand the clinical features, testing and management of medical conditions that may have either genetic or non-genetic etiology. Examples include but are not limited to hypertrophic cardiomyopathy and amyotrophic lateral sclerosis.
    • Calculate risk using various techniques and sources of information. Examples include but are not limited to pedigree analysis (Mendelian risk), Bayesian analysis, empiric risk, and laboratory results.
    • Understand consanguinity, how to calculate coefficients of inbreeding and assess genetic risk.
    • Understand the common causes of, and appropriate investigations for recurrent pregnancy loss.
    • Understand dysmorphology concepts. Examples include but are not limited to isolated birth defects, syndromes and sequences/associations.

  • Unit 3: Molecular Genetics

    • Understand mechanisms that lead to mutations, the different types of mutations and genetic changes and how these contribute to human variability and disease.
    • Understand techniques used to define and describe genes. Examples include but are not limited to family studies, genome wide association studies and comparative genomic hybridization.
    • Understand clinical molecular testing techniques including indications for, limitations of and the types of mutation they identify. Examples include, but are not limited to sequencing, panels, whole exome sequencing, MLPA, and linkage analysis.
    • Understand the presentation, frequency, inheritance pattern, molecular defect, diagnostic techniques and management of molecular disorders.
    • Understand the classification and interpretation of molecular variants.

  • Unit 4: Cytogenetics

    • Understand cytogenetic techniques, including indications for, limitations of each technique and the type of chromosome abnormality they identify.
    • Understand mechanisms that lead to numerical and structural chromosome abnormalities.
    • Be familiar with recognized chromosome variants of no phenotypic consequence, such as 1qh+, and the implications for genetic counselling.
    • Understand the presentation, frequency, cytogenetic defect, diagnostic techniques, and management of cytogenetic disorders. Examples include but are not limited to aneuploidy, translocations, chromosome breakage syndromes and microdeletion/microduplication syndromes.
    • Be familiar with standard cytogenetic nomenclature.

  • Unit 5: Biochemical Genetics

    • Understand the components of a metabolic pathway and the different possible effects on a pathway when an enzyme is impaired or non-functional.
    • Understand common terms associated with biochemistry. Examples include but are not limited to oxidation, catabolism, metabolism and phosphorylation.
    • Understand biochemical testing including indications for, limitations of and the types of conditions they identify. Examples include but not limited to enzyme assays and plasma/urine amino acids.
    • Understand the presentation, frequency, inheritance pattern, biochemical defect, and management of metabolic disorders.

  • Unit 6: Cancer Genetics

    • Understand the basic principles and theories of cancer genetics and oncogenesis.
    • Understand and interpret the influence of family history and other risk factors on cancer susceptibility.
    • Recognize family history features and clinical features associated with an inherited susceptibility to cancer and appropriateness for genetic testing.
    • Understand the presentation, frequency, inheritance pattern, genetic testing and management of cancer predisposition syndromes.
    • Understand and be able to address the benefits, risks, and limitations of genetic testing for cancer susceptibility.

  • Unit 7: Genetic Screening

    • Understand the different types of screening programs, their target population and methodologies. Examples include but not limited to newborn screening, prenatal screening and population screening.
    • Understand the criteria used to select conditions and establish screening programs.
    • Understand the statistical measures of a screening test. Examples include but are not limited to validity, reliability, sensitivity and specificity.
    • Understand the risks, limitation and benefits of screening programs including potential ethical and legal concerns.

  • Unit 8: Prenatal Diagnosis

    • Understand the indications, advantages, limitations and risks associated with prenatal diagnostic procedures.
    • Understand available prenatal screening options, including their sensitivity, specificity, limitations, false positive rates, positive predictive value and how to interpret the results.
    • Understand the indications, advantages, limitations, risks and accuracy of prenatal imaging including but not limited to ultrasound, fetal MRI and fetal echocardiography.
    • Understand the risks associated with single or multiple ultrasound soft markers and the appropriate follow up for each.
    • Understand the differential diagnosis and etiology of ultrasound abnormalities and the appropriate diagnostic testing options.
    • Understand the different methods used for termination of pregnancy and the risks, benefits, psychosocial implications and legal issues of each.
    • Understand prenatal risk factors. Examples include but are not limited to parental age, teratogens, and maternal health and the appropriate counselling and investigations for exposed pregnancies.
    • Be familiar with various assisted reproductive technologies and be aware of the benefits, risks and limitations of each.
    • Understand the general concepts of embryonic development and define the developmental stages of embryogenesis.
    • Understand the mechanisms of dysmorphism. Examples include but are not limited to malformations, deformations and disruptions.

  • Unit 9: Prenatal Diagnosis

    • Understand and apply the principles of medical ethics to the practice of genetic counselling. Examples include but are not limited to autonomy, nonmaleficence, beneficence, justice and paternalism.
    • Understand and apply principles of client -centered counselling and understand the essential components of communication.
    • Understand and apply genetic counselling strategies. Examples include but are not limited to contracting, shared decision-making and self-disclosure.
    • Understand common psychotherapy terms and principles. Examples include but are not limited to defense mechanisms, transference and coping mechanisms.
    • Obtain and interpret appropriate medical, social and family histories.
    • Understand the grieving process including the stages of grieving and the features of unhealthy grief. Understand bereavement issues as they pertain to genetic counselling.
    • Demonstrate an awareness of diverse cultures, values and beliefs and the potential barriers to genetic counselling services.
    • Understand the legal and ethical issues pertinent to genetic counselling and testing. Examples include but are not limited to practice guidelines, incidental findings, genetic discrimination and privacy of health information.

How to prepare

Work through the topics, read the explanation after each answer, and revisit the areas where you miss questions. Use the official outline and reference materials below to guide your study.

These independent practice questions are not actual exam items and do not guarantee a passing result.

Frequently asked questions

What is the exam format?

Computer-based multiple-choice examination, available in English and French on one platform; the 2027 examination is online and remotely proctored.

How long is the exam?

Three hours of examination time, with no scheduled break; extra time is not granted for switching languages.

What is the passing score?

Set for each examination using a modified Angoff method, with post-examination psychometric review; passing scores typically range from 70% to 75%, not a guaranteed fixed cut score.

How much does the exam cost?

Official fees are labelled with '$' without an explicit currency code on the fee page. Pathways A/C/D: $155 application + $725 administration/examination = $880 total ($830 early bird). Pathway B: $315 + $725 = $1040 ($990 early bird). Re-write or recertification by examination: $725 ($675 early bird). Writing after a deferral: $105 ($80 early bird). Early bird: October 1–31; full fees from November 1. Fees subject to change.

Official sources and references

Confirm current exam arrangements with the exam provider.