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

Overview

Test name

Help

Joubert/Meckel-Gruber syndrome Panel

Purpose of the test

Help

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

Condition

Help

27 conditions tested. Click Indication tab for more information.

Methodology

Help
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

Help

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

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

Clinical utility

Help

Establish or confirm diagnosis

Citations

How to order

Help

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: http://dnatesting.uchicago.edu/submitting-sample

Test services

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

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk