Examination Practice Questions And

Illinois Genetic Counselor Licensing Examination Practice Questions And Correct Answers (Verified Answers) Plus Rationales 2026 Q&A | Instant Download Pdf

• Which type of genetic test evaluates the entire genome to identify

variations associated with disease?

• Single-gene testing
• Whole genome sequencing
• Chromosomal microarray
• Carrier screening

Whole genome sequencing examines all DNA, identifying single nucleotide variants, insertions, deletions, and structural variations across the genome. 1 / 4

• In counseling a patient about BRCA1 mutations, which of the following

is most appropriate?

• Testing only if symptoms are present
• Reassure them no increased risk exists
• Discuss both cancer risk and preventive options
• Advise against testing due to insurance concerns

BRCA1 mutations confer high lifetime risk of breast and ovarian cancers; counseling should include risk and preventive strategies.

• A 25-year-old woman is a known carrier for cystic fibrosis. Her partner

is not a carrier. What is the risk for their child to be affected?

• 0%

B. 25%

C. 50%

• 0%

Cystic fibrosis is autosomal recessive; if only one parent is a carrier, the child cannot be affected but may be a carrier.

• Which model is commonly used to help patients make informed

decisions regarding genetic testing?

• Transtheoretical model
• Health Belief Model
• Non-directive counseling model
• Stages of grief model 2 / 4

Genetic counseling emphasizes autonomy; the non-directive model helps patients make informed choices without coercion.

5. In a pedigree, a filled square indicates:

• Unaffected male
• Unaffected female
• Affected male
• A carrier female

Standard pedigree notation uses filled symbols to indicate affected

individuals: squares for males, circles for females.

• Turner syndrome is caused by which karyotype?

A. 47,XXY

B. 45,X

C. 46,XY

D. 47,XXX

Turner syndrome results from monosomy X, where a female has only one X chromosome.

• A patient presents with Marfan syndrome features. Which gene is

most likely involved?

A. FMR1

B. FBN1

C. BRCA2

D. CFTR 3 / 4

Marfan syndrome is caused by pathogenic variants in the FBN1 gene affecting connective tissue.

• Which type of inheritance shows male-to-male transmission and equal

male/female prevalence?

• X-linked recessive
• Autosomal dominant
• Mitochondrial
• X-linked dominant

Autosomal dominant inheritance affects males and females equally and can be transmitted from father to son.

• Which ethical principle emphasizes respecting a patient’s right to

make their own decisions?

• Beneficence
• Nonmaleficence
• Justice
• Autonomy

Autonomy supports the patient’s right to informed decision-making in genetic counseling.

• A 35-year-old pregnant woman requests non-invasive prenatal

testing (NIPT). What does this test primarily detect?

• Single-gene disorders
• Chromosomal aneuploidies
• Teratogenic exposures
• / 4