Disorders


 

Congenital Finnish Nephrosis


Synonym(s): CNF, Congenital Nephrosis 1, Finnish Type, Congenital Nephrotic Syndrome 1, Congenital Nephrotic Syndrome, Finnish Type, NPHS1

 

OMIM

GeneLocusProtein
NPHS119q12-q13.1Nephrin

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Cologne University, Institute of Human Genetics - Cologne, Germany  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada  
HUSLAB, Laboratory of Genetics - Helsinki, Finland• Targeted mutation analysis
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
Medgene, MedGene - Bratislava, Slovakia  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  

* 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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