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ABMGG Molecular Genetics and Genomics Techniques Flashcards

6 cards from real ABMGG practice questions. Tap to flip, then mark Knew It or Still Learning — missed cards come back until you master them.

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  1. Whole genome sequencing (WGS) detects which class of variants that whole exome sequencing (WES) routinely misses?

    Answer: Deep intronic and regulatory region variants

    WES captures only exons; WGS covers introns, promoters, and other regulatory regions where disease-causing variants can reside.

  2. What is the clinical significance of a homozygous deletion detected by chromosomal microarray in a consanguineous family?

    Answer: It may unmask a recessive pathogenic variant, indicating autozygosity by descent

    Regions of homozygosity in consanguineous families often reflect identity by descent, increasing the probability that a pathogenic recessive allele is present in two copies.

  3. Multiplex ligation-dependent probe amplification (MLPA) is primarily used in clinical genetics to:

    Answer: Quantify copy number at specific gene loci using probe signals

    MLPA uses pairs of probes that ligate and amplify only when both hybridize adjacently, allowing quantification of up to 50 loci in a single reaction.

  4. In pharmacogenomics, which cytochrome P450 enzyme polymorphisms are most commonly assessed to guide drug dosing decisions in clinical genetics?

    Answer: CYP2D6 and CYP2C19

    CYP2D6 and CYP2C19 metabolize a large proportion of commonly prescribed drugs; variants in these genes cause poor-metabolizer or ultra-rapid-metabolizer phenotypes.

  5. A pathogenic variant classified as 'likely pathogenic' under ACMG/AMP guidelines has what minimum probability of being disease-causing?

    Answer: Greater than 90%

    The ACMG/AMP framework defines 'likely pathogenic' as >90% probability of pathogenicity based on the combined evidence criteria scored.

  6. Which genomic technique is considered most appropriate as a first-tier test for a child with unexplained intellectual disability and dysmorphic features in current US clinical practice?

    Answer: Chromosomal microarray

    Professional guidelines from ACMG and AAP recommend chromosomal microarray as the first-tier cytogenomic test for unexplained intellectual disability and multiple congenital anomalies.