We've Built a Bigger Cornelia de Lange Panel
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We are excited to announce a new, 42 gene comprehensive panel for Cornelia de Lange Syndrome and Related Disorders. Because of genetic heterogeneity and phenotypic overlap, identifying the genetic cause of Cornelia de Lange Syndrome and Related Disorders is often challenging. This panel has been carefully designed to maximize clinical sensitivity and to achieve molecular diagnosis for Cornelia de Lange Syndrome and Related conditions.
Common clinical features of Cornelia de Lange Syndrome are proportionate small stature; developmental delay; specific facial features; major malformations of cardiac, gastrointestinal, musculoskeletal systems and behavioral abnormalities (Kline etal., 2007. PubMed ID: 17508425). With emerging milder and more diverse phenotypes, many related disorders are covered in this panel including Adams-Oliver Syndrome, CHARGE Syndrome, Coffin-Siris Syndrome, Floating-Harbor Syndrome, Lujan-Fryns Syndrome, Roberts Syndrome, Roberts-SC phocomelia Syndrome, Rubinstein-Taybi Syndrome, Weidemann-Steiner Syndrome, FG Syndrome (also known as Opitz-Kaveggia Syndrome), KDM1A- related cleft palate, psychomotor retardation, and distinctive facial features as well as intellectual disability related to CTCF, TAF1, and WDR26 (Yuan et al., 2016. PubMed ID: 25574841).
Our smaller, 8 gene, Cornelia de Lange Syndrome Sequencing Panel remains available.
Put us to the test!
References
Kline, A et al. 2007. American Journal of Medical Genetics. 143A:1287-1296. PubMed ID: 175084245.
Yuan B. et al. 2015. The Journal of Clinical Investigation. 125: 636-51. PubMed ID: 25574841.