Velocardiofacial/DiGeorge Syndrome Deletion/Duplication

Test Background

Over 90% of patients with classical DiGeorge syndrome or velocardiofacial syndrome (classical DGS/VCFS) have a de novo 22q11.2 deletion, and 7% of patients have an inherited 22q11.2 deletion from a parent. Deletions in this region are also associated with other phenotypes including isolated cardiovascular malformations and Opitz G syndrome. A small number of patients with a DGS/VCFS clinical phenotype without a 22q11.2 deletion (DGS/VCFS syndrome 2) have a deletion at chromosome 10p14. The main features of DGS/VCFS include heart defects, palatal abnormalities, characteristic facial features, learning difficulties, and immune deficiency. There is also a reciprocal duplication syndrome for the 22q11.2 region. The 22q11.2 duplication is highly variable. Findings range from apparently normal to intellectual disability/learning disability, delayed psychomotor development, growth retardation, and/or hypotonia. This laboratory performs deletion/duplication by MLPA for the 22q11.2 and 10p14 regions.

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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