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

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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

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