Disorders


 

Polycystic Kidney Disease, Autosomal Recessive


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

 

GeneReviewOMIM

GeneLocusProtein
PKHD16p21.2-p12Fibrocystin

Laboratory Test Method Prenatal Carrier *
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany• Sequence analysis of the entire coding region
• Linkage analysis
• Deletion/duplication analysis
 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Department of Genetics UAB, Medical Genomics Laboratory - Birmingham, AL, USA• Sequence analysis of the entire coding region
• Linkage analysis
• Deletion/duplication analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
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• Sequence analysis of the entire coding region
• Linkage analysis
• Deletion/duplication analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
• Sequence analysis of select exons
• Targeted mutation analysis
InVitae Corporation - San Francisco, CA, USA• Sequence analysis of the entire coding region
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of the entire coding region
• 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.

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