Disorders

OFD1-Related Joubert Syndrome

Synonym(s): JBTS10, Joubert Syndrome 10

Gene	Locus	Protein
OFD1	Xp22	Oral-facial-digital syndrome 1 protein

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
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
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
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.