Disorders

Polycystic Kidney Disease, Autosomal Recessive

Synonym(s): ARPKD, PKD, Infantile, PKD, Recessive, Polycystic Kidney Disease, Infantile, Polycystic Kidney Disease, Infantile, Type 1

GeneReview OMIM

Gene	Locus	Protein
PKHD1	6p21.2-p12	Fibrocystin

Laboratory	Test Method	Prenatal	Carrier *
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany	• Linkage analysis
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Department of Genetics UAB, Medical Genomics Laboratory - Birmingham, AL, USA	• Linkage analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GGA - Galil Genetic Analysis - Kazerin, Israel
HUSLAB, Laboratory of Genetics - Helsinki, Finland	• Targeted mutation analysis
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Sequence analysis of select exons
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain	• Linkage analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of select exons • Targeted mutation analysis
InVitae Corporation - San Francisco, CA, USA
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Targeted mutation analysis • Linkage analysis
Tor Vergata University of Roma, School of Medicine, Servizio di Genetica Medica - Rome, Italy	• Linkage analysis
University of Turku, Diagnostic DNA Laboratory - Turku, Finland	• Sequence analysis of select exons • Targeted mutation analysis

^* 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.