Disorders


 

TRIM32-Related Bardet-Biedl Syndrome


Synonym(s): BBS11

 

OMIM

GeneLocusProtein
TRIM329q33.1 

Laboratory Test Method Prenatal Carrier *
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany• Linkage analysis
  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany  
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany  
CGC Genetics - Porto, Portugal• Targeted mutation analysis
  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
InVitae Corporation - San Francisco, CA, USA  
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
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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