Table 1.

Summary of Molecular Genetic Testing Used in 15q24 Microdeletion

Chromosomal RegionTest MethodMutations DetectedMutation Detection Frequency by Test Method 1
15q24Deletion/ duplication analysis 2Deletion of 1.1-Mb critical region~100% with appropriate probes

The ability of the test method used to detect a deletion or duplication that is present in the indicated chromosomal region


Testing that identifies deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA; included in the variety of methods that may be used are: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.

From: 15q24 Microdeletion Syndrome

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