Disorders

Pancreatic Agenesis and Congenital Heart Defects

Synonym(s): Congenital Pancreatic Hypoplasia with Diabetes Mellitus and Congenital Heart Disease, PACHD

Gene	Locus	Protein
GATA6	18q11-q12	Transcription factor GATA-6

Laboratory	Test Method	Prenatal	Carrier *
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.