Miller-Dieker Syndrome Deletion

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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Ordering

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Test Code
C0975

Turn Around Time
2-3 weeks

Billing

CPT Code
81479×1

Ordering Guidance

Should not be ordered in conjunction with chromosomal microarray analysis as the CMA is able to detect this microdeletion/duplication syndrome.

If there are questions regarding this test, please contact Client Services at 617-553-5880 or clientservices@claritasgenomics.com

Details

Genes Covered
17p13.3 (including LIS1, HIC1, YWHAE)

Methods
MLPA