Disorders


 

TCTN1-Related Joubert Syndrome


Synonym(s): JBTS 13, Joubert Syndrome 13

 

OMIM

GeneLocusProtein
TCTN112q24.11 

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of the entire coding region
  
InVitae Corporation - San Francisco, CA, USA• Sequence analysis of the entire coding region
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA• Sequence analysis of the entire coding region

* 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.

Loading...