CGC Laboratory Genetics & Variant Interpretation 2

Question 1

The American College of Medical Genetics (ACMG) recommends that clinical laboratories report secondary findings in a defined list of genes. These findings are BEST described as:

Accepted Answer

Variants found incidentally that are unrelated to the reason for testing but have actionable health implications

Answer

ACMG secondary findings are medically actionable variants in a specific gene list found incidentally during sequencing that patients may opt in or out of receiving.

Question 2

Fluorescence in situ hybridization (FISH) is BEST used in clinical genetics to:

Accepted Answer

Detect specific chromosomal deletions, duplications, or rearrangements using targeted probes

Answer

FISH uses fluorescently labeled probes complementary to specific chromosomal regions to detect targeted deletions, duplications, or translocations.

Question 3

The term 'diagnostic yield' in clinical genetics refers to:

Accepted Answer

The proportion of tested individuals who receive a molecular diagnosis from a given test

Answer

Diagnostic yield is the percentage of patients who receive a definitive molecular diagnosis, which varies by test type, clinical indication, and phenotype.

Question 4

Which of the following is a limitation of whole genome sequencing (WGS) compared to targeted panel testing?

Accepted Answer

WGS generates a large number of variants of uncertain significance and incidental findings requiring interpretation

Answer

The breadth of WGS results in many VUSs and potential secondary/incidental findings that increase interpretive complexity and counseling burden.

Question 5

A laboratory reports a deletion using the term 'copy number variant (CNV).' This means:

Accepted Answer

A segment of DNA has been duplicated or deleted relative to the reference genome

Answer

CNVs are structural variants involving gains (duplications) or losses (deletions) of genomic segments ranging from kilobases to megabases.

CGC - Certified Genetic Counselor Practice Test

CGC - Certified Genetic Counselor Practice Test

CGC Laboratory Genetics & Variant Interpretation 2