Congenital malformations arise during fetal development and are present at birth, and may be related to both hereditary causes as well as environmental exposures, such as toxins, infections and trauma. One or several areas of the body may be affected.

As the genetic etiologies of congenital malformations significantly vary, the University of Chicago Genetic Services Laboratories offers a wide spectrum of genetic tests to identify these conditions.

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