Disorders

Renal Coloboma Syndrome

Synonym(s): Papillorenal Syndrome, PapilloRenal Syndrome, Renal-Coloboma Syndrome

Gene	Locus	Protein
PAX2	10q24.31	Paired box protein Pax-2

Laboratory	Test Method	Prenatal	Carrier *
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany	• Linkage analysis
Centogene AG, Rare Disease Company - Rostock, Germany
Cologne University, Institute of Human Genetics - Cologne, Germany
GeneDx - Gaithersburg, MD, USA
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
University of Minnesota, University of Minnesota Physicians Outreach Laboratory - Minneapolis, MN, 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.