Utility of Fluorescence In Situ Hybridization (FISH) to Confirm Copy Number Changes Identified by Microarray

2014

Kellie Ellerbusch
[email protected]
402-559-4892

Microarray is recommended as a first-tier test for patients with intellectual disability, autism, and multiple congenital anomalies. Fluorescence in situ hybridization (FISH) has been considered the gold standard for confirmation of copy number variants (CNVs) identified by microarray. The results of this retrospective analysis demonstrate that FISH testing did not identify any false positive results by microarray. These data show that the lack of concordance between the CNVs identified by microarray and FISH originated exclusively from the limitations of the FISH assay. Thus, these results suggest that FISH testing solely for the purpose of microarray verification may be unwarranted. However, this study does not diminish the utility of FISH testing following microarray for a number of other valid purposes, as FISH continues to provide a cost-effective approach to familial testing and offers information about the orientation of chromosomal material that cannot be visualized by microarr

Microarray, intellectual disability, autism, congenital anomalies

Conference presentations and posters presented

Professionals

Electronic (disc, CD, 508 compliant web posting)

[email protected]

N/A