Disorders


 

Nephrogenic Diabetes Insipidus, X-Linked


Synonym(s): NDI, X-Linked

 

OMIM

GeneLocusProtein
AVPR2Xq28Vasopressin V2 receptor

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Linkage analysis
  
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of select exons
  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany  
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, 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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