ABMGG ABMGG Molecular Genetics and Genomics Techniques

Question 1

Which next-generation sequencing approach sequences all protein-coding regions of the genome and is commonly used in ABMGG clinical practice?

Accepted Answer

Whole exome sequencing

Answer

RNA sequencing

Answer

Methylation array

Answer

Chromosomal microarray

Question 2

What is the primary purpose of chromosomal microarray analysis (CMA) in medical genetics?

Accepted Answer

Detecting copy number variants across the genome

Answer

Sequencing individual gene exons

Answer

Measuring RNA expression levels

Answer

Identifying trinucleotide repeat expansions

Question 3

Which molecular technique is the gold standard for confirming the size of trinucleotide repeat expansions such as those in Huntington disease?

Accepted Answer

Southern blot analysis

Answer

FISH

Answer

Chromosomal microarray

Answer

Whole genome sequencing

Question 4

In ABMGG genomic practice, a variant of uncertain significance (VUS) is best managed by:

Accepted Answer

Performing segregation analysis in affected family members

Answer

Immediately reporting it as pathogenic to the ordering clinician

Answer

Ignoring it because it has no clinical significance

Answer

Treating the patient based on the VUS alone

Question 5

Which bioinformatics database is most commonly used by ABMGG-certified clinical laboratory geneticists to interpret variant pathogenicity?

Accepted Answer

ClinVar

Answer

PubMed

Answer

OMIM only

Answer

GenBank

Question 6

The ACMG/AMP 2015 framework classifies sequence variants into how many categories?

Accepted Answer

5

Answer

3

Answer

7

Answer

4