American Society for Clinical Pathology (ASCP) Technologist in Cytogenetics certification (ASCP CG) Practice Test

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What is the ISCN notation for a cell with a MLL FISH signal pattern of 1F 1R 1G?

nuc ish (MLLx1)(5?MLL sep 3?MLLx2)
nuc ish (MLLx2)(5?MLL sep 3?MLLx1)
nuc ish (MLLx3)(5?MLL sep 2?MLLx1)
nuc ish (MLLx2)(5?MLL sep 2?MLLx2)

The correct answer is: nuc ish (MLLx2)(5?MLL sep 3?MLLx1)

The appropriate notation for the given MLL FISH signal pattern of 1F 1R 1G is represented best by the choice that denotes the count and arrangement of the signals for the MLL gene appropriately. This specific notation conveys the presence of two hybridization signals for the MLL locus, indicated by the "x2." In the context of the FISH analysis, the notation emphasizes that there are two copies of one signal and one of another, which is essential to denote the gene dosage and arrangement effects when interpreting cytogenetic findings. The descriptions "5?MLL sep" and "3?MLL" provide a framework for the relative locations of these signals along the chromosome, which is crucial for properly assessing any potential rearrangements or abnormalities involving the MLL gene. The correct answer reflects an understanding of the signals indicating the presence of copies and their spatial organization, which is significant in diagnosing certain hematologic malignancies and understanding the genetic landscape of the cells being analyzed. This level of comprehension is necessary for accurate interpretation in clinical cytogenetics and proper reporting in accordance with the International System for Human Cytogenomic Nomenclature (ISCN).