• Test Code:
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  • Test Synonyms:
    Brain malformationsCiliopathiesSeizures/EpilepsyEye disordersAHI1ARL13BB9D1B9D2C5ORF42CC2D2ACEP290CEP41INPP5E KIF7MKS1NPHP1NPHP3OFD1RPGRIP1LTCTN1TCTN2TMEM138TMEM216TMEM237TMEM67TTC21B
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Joubert syndrome and Joubert-like disorders are neurological conditions characterized by the signature molar-tooth sign visualized by MRI as well as global developmental delays and hypotonia. At times epilepsy or abnormal eye movements can been seen in these individuals. These conditions are an emerging form of a family of ciliopathy conditions. Ciliopathies are disorders the affect cilium function. These conditions are inherited typically inherited as autosomal recessive but also be X-linked.

Reasons for Referral:

  • Clinical phenotypes of abnormal MRI, hypotona and developmental delays.
  • Confirmation of a clinical diagnosis
  • Carrier testing

For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated..

Joubert Syndrome Panel (22 genes): AHI1, ARL13B, B9D1, B9D2, C5ORF42, CC2D2A, CEP290, CEP41, INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM216, TMEM237, TMEM67, TTC21B


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Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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