ABMGG LGG Practice Questions - ABMGG Laboratory Genetics and Genomics (LGG) Exam - ABMGG LGG Practice Questions - ABMGG Laboratory Genetics and Genomics (LGG) Exam

Question 1

What is the primary purpose of G-banding in conventional cytogenetic analysis?

To identify single nucleotide variants in coding regions To produce a reproducible banding pattern for chromosome identification and structural analysis To quantify gene expression levels across the genome To detect methylation patterns at CpG islands

Correct Answer:

To produce a reproducible banding pattern for chromosome identification and structural analysis

Question 2

A karyotype shows 45,X in 80% of cells and 46,XX in 20% of cells from peripheral blood. How should this result be reported using ISCN nomenclature?

45,X/46,XX mos 45,X[80]/46,XX[20] 45,X[80%]/46,XX[20%] 46,XX/45,X

Correct Answer:

mos 45,X[80]/46,XX[20]

Question 3

Which technique is MOST appropriate for rapidly confirming a suspected diagnosis of trisomy 21 in a neonate before full karyotype results are available?

Whole genome sequencing Interphase FISH with chromosome 21-specific probes Southern blot analysis Sanger sequencing of the DYRK1A gene

Correct Answer:

Interphase FISH with chromosome 21-specific probes

Question 4

A chromosomal microarray (CMA) reveals a 3 Mb deletion at 22q11.2 in a child with conotruncal heart defect and palatal abnormalities. What is the most likely diagnosis?

Williams syndrome DiGeorge syndrome / 22q11.2 deletion syndrome Angelman syndrome Smith-Magenis syndrome

Correct Answer:

DiGeorge syndrome / 22q11.2 deletion syndrome

Question 5

In the ACMG/AMP 5-tier variant classification system, which category indicates that there is strong evidence supporting a causative role in disease?

Likely benign Variant of uncertain significance (VUS) Likely pathogenic Pathogenic

Correct Answer:

Pathogenic

Question 1

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About this Exam

Prepare with the ABMGG LGG Practice Questions - ABMGG Laboratory Genetics and Genomics (LGG) Exam practice quiz. This question bank includes 100 questions covering variant, laboratory, clinical, analysis, and gene. Use it to review important concepts, identify knowledge gaps, and build confidence for the related exam, course, or assessment.

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ABMGG LGG Practice Questions - ABMGG Laboratory Genetics and Genomics (LGG) Exam

This practice set contains 100 questions from the matching question bank and focuses on variant, laboratory, clinical, analysis, and gene. Work through each question carefully, review the provided solutions, and revisit topics that need more study before your next attempt.

This is an independent study resource intended for practice and review; it is not an official examination or an endorsement by any organization named in the title.

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ABMGG LGG Practice Questions - ABMGG Laboratory Genetics and Genomics (LGG) Exam

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