Joubert and Meckel-Gruber syndromes Report


Joubert and Meckel-Gruber Syndromes

Joubert and Meckel-Gruber Syndromes report is used to identify genetic variants associated with Joubert syndrome and related disorders (JSRD) and Meckel-Gruber syndrome (MKS), rare genetic disorders that affect the development of the brain and other organs. This report tests for genetic variants in genes that are important for the formation and function of a structure in the brainstem called the cerebellar vermis.

More than 35 genes analyzed

It is recommended if:

This report is designed for individuals with a family history of JSRD or MKS or for those who have symptoms of the conditions, such as developmental delay, breathing problems, eye movement abnormalities, kidney cysts, and liver problems. Early diagnosis through genetic testing can help inform treatment and management decisions, including supportive care and monitoring for complications. It can also inform family planning decisions and provide reassurance for unaffected family members.

List of main conditions:

  • Joubert and Meckel-Gruber Syndromes
  • Available in less than 24 hours
  • Based on Whole Genome Sequencing
  • Investigates SNP and Indel mutations up to 150 bp


How will my data be used?

Your data is yours. Which is why we have developed proprietary software linked to a dedicated platform, the Genome Manager, to provide you with unique access to your data whenever you want, wherever you are.

How can my doctor use the results?

You will be provided with a digital version of the raw data and reports. Thanks to these in-depth tools, you will be able to share your preferred information with your geneticist and/or doctor to indicate and plan the healthiest course for you. 

How will I receive my reports?

The first thing to do when you receive your kit is to register it on your Genome Manager account. Dante's proprietary platform will keep you up-to-date on all stages of your genetic journey, providing you with the real-time status of your sample and where you can download your free report and raw data* at any time.

*Raw data will be available free of charge for the first 30 days after release.

How can I add other reports to my account?

At any time, you can log into your Genome Manager account and visit the Shop section. Here you will find a catalog with more than 150 additional reports dedicated to all areas of health. In addition, by subscribing to our newsletter you can always see new reports and panel updates.

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