A congenital malformation is a physical defect present at birth. These malformations can affect any part of the body, and may be caused by genetics, environmental exposures, or a combination of factors.

As the genetic etiologies of congenital malformations vary, the University of Chicago Genetic Services Laboratories offers testing for a variety of indications.

Any gene on any of the panels below can also be ordered individually. Please contact us directly for cost and CPT code information.

Related Tests by Disorder



Beckwith-Wiedmann syndrome


Coffin-Siris syndrome

Cornelia de Lange syndrome

Craniofacial Disorders

Disorders of Bone and Cartilage Development

Kabuki syndrome



Pancreatic Agenesis

Primordial dwarfism

Robinow Syndrome

Rubinstein Taybi syndrome

Russell-Silver syndrome

All Related Tests