Disorders


 

Bartter Syndrome Type 3


Synonym(s): Classic Bartter Syndrome

 

OMIM

GeneLocusProtein
CLCNKB1p36Chloride channel protein ClC-Ka

Laboratory Test Method Prenatal Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany  
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of select exons
  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Institut de Pathologie et de Genetique, Centre de Genetique Humaine - Gosselies, Belgium  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
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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