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UChicago Genetic Testing
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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)
IMAGe Syndrome/Beckwith-Wiedemann Syndrome Testing (CDKN1C)
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