GTR Home > Tests > Joubert/Meckel-Gruber syndrome Panel


Test name


Joubert/Meckel-Gruber syndrome Panel

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Monitoring, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening



27 conditions tested. Click Indication tab for more information.


Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what tested

25 genes and variants. Click Methodology tab for more information.

Genes and variants

Clinical validity


To date, mutations in the Joubert/Meckel-Gruber Syndrome Panel account for less than 50% of Joubert syndrome cases. Mutations in the Meckel Gruber Syndrome Panel account for approximately 75% of cases

  • Parisi MA et al., “Joubert syndrome and related disorders.” GeneReviews, last updated Sept. 2013.

Clinical utility


Establish or confirm diagnosis


How to order


All samples should be shipped via overnight delivery at room temperature. No weekend or holiday deliveries. Label each specimen with the patient’s name, date of birth and date sample collected. Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help:

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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