• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Brain malformations • Ciliopathies • Seizures/Epilepsy • Eye disorders • AHI1 • ARL13B • B9D1 • B9D2 • C5ORF42 • CC2D2A • CEP290 • CEP41 • INPP5E • KIF7 • MKS1 • NPHP1 • NPHP3 • OFD1 • RPGRIP1L • TCTN1 • TCTN2 • TMEM138 • TMEM216 • TMEM237 • TMEM67 • TTC21B
  • CPT Code(s):
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Background:

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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