Pancreatic Agenesis panel

Pancreatic agenesis describes a congenital malformation of the pancreas in which either the entire dorsal pancreas or part of the dorsal pancreas fails to develop (complete agenesis or partial agenesis, respectively). Some individuals experience no symptoms, while others may develop hyperglycemia, diabetes mellitus, bile duct obstruction, abdominal pain, pancreatitis, or other conditions. Hyperglycemia has been shown to be present in approximately 50% of affected individuals. Pancreatic agenesis has been associated with pathogenic variants in the PDX1 gene, which encodes the insulin promoter factor-1 (IPF-1) transcription factor, and PTF1A gene which is associated with an autosomal recessive syndrome of neonatal diabetes mellitus with cerebellar and/or pancreatic agenesis. Recently, heterozygous pathogenic variants in GATA6 are considered  as the most common cause of pancreatic agenesis. This panel includes sequence and deletion/duplication analysis of the listed genes.