Disorders


 

INPP5E-Related Joubert Syndrome


 

OMIM

GeneLocusProtein
INPP5E9q34.3 

Laboratory Test Method Prenatal Carrier *
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany• Linkage analysis
  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
diagenos - Osnabrueck, Germany  
InVitae Corporation - San Francisco, CA, USA  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Medgene, MedGene - Bratislava, Slovakia  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA  

* 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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