Miller-Dieker syndrome is caused by large deletions of 17p13.3 affecting the PAFAH1B1 gene (also known as LIS1). Deletion of LIS1 is responsible for the lissencephaly, but microdeletions often include the adjacent genes HIC1 and YWHAE. This laboratory performs deletion/duplication by MLPA for this region.
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Should not be ordered in conjunction with chromosomal microarray analysis as the CMA is able to detect this microdeletion/duplication syndrome.
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17p13.3 (including LIS1, HIC1, YWHAE)