Congenital Malformations | The University of Chicago Genetic Services

Congenital Malformations

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.

Cornelia de Lange and Related Disorders Panel

Craniofacial Panel

Currarino Syndrome Testing (MNX1)

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Distal Arthrogryposes Panel

Donnai-Barrow Syndrome Testing (LRP2)

Facial Dysostosis Panel

Goldberg Schprintzen Megacolon Syndrome Testing (KIAA1279)