Langer-Giedion Syndrome Deletion

Test Background

Langer-Giedion syndrome is a contiguous gene deletion syndrome caused by a deletion encompassing the TRPS1 and EXT1 genes. Many patients with Langer-Giedion syndrome have cytogenetically visible deletions. Most deletions in Langer-Giedion syndrome will be detected by MLPA. Only about 30% of patients with the related Type 1 Trichorhinophalangeal syndrome will have a detectable deletion by MLPA testing; most of these patients have point mutations. This laboratory performs deletion/duplication by MLPA of this region.

Gene(s): 

TRPS1, EXT1

Lab Method

MLPA

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

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