Disorders

Nephronophthisis 3

Synonym(s): Adolescent Nephronophthisis, NPH 3, NPH3, NPHP3

Gene	Locus	Protein
NPHP3	3q22	Nephrocystin-3

Laboratory	Test Method	Prenatal	Carrier *
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany	• Linkage analysis
CeGaT GmbH - Tuebingen, Germany
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
InVitae Corporation - San Francisco, CA, USA
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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.