Disorders


 

McKusick-Kaufman Syndrome


 

GeneReviewOMIM

GeneLocusProtein
MKKS20p12McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

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  
GGA - Galil Genetic Analysis - Kazerin, Israel  
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  

* 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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