• Test Code:
    1725
  • Department:
  • Test Synonyms:
    Brain malformationsCiliopathiesSeizures/EpilepsyEye disordersAHI1ARL13BB9D1B9D2C5ORF42CC2D2ACEP290CEP41INPP5E KIF7MKS1NPHP1NPHP3OFD1RPGRIP1LTCTN1TCTN2TMEM138TMEM216TMEM237TMEM67TTC21B
  • CPT Code(s):
    8140681407x28140881479x18
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

Methodology:

Next generation sequencing will analyze the exons or coding regions of 22 Joubert Syndrome-associated genes using Illumina NextSeq 500 technology.  Samples are prepared using hybridization probes to enrich exonic regions.  Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

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

Specimen Requirements:

Blood: EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

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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