Bardet Biedl Syndrome Report


Bardet Biedl Syndrome

Bardet Biedl Syndrome is a rare genetic disease belonging to the group of ciliopathies, pathological conditions affecting the ciliary apparatus of cells. Hair cells are found in numerous body districts such as the eyes and kidneys, where they function as sensory receptors or elements of intercellular communication, respectively. In other cases, cilia are required for cell movement. Genetic mutations affecting the eyelashes involve, in Bardet Biedl Syndrome, serious alterations of cellular signaling during development, involving the impairment of sensory functions.

More than 25 genes analyzed

It is recommended if:

This report is recommended for individuals with symptoms of vision loss, obesity, or intellectual disability, as well as those with a family history of Bardet-Biedl Syndrome. It could be particularly suitable for children with typical signs and symptoms of Bardet Biedl Syndrome, such as polydactyly/syndactyly, genitourinary malformations, and nephropathy.

List of main conditions:

  • Bardet Biedl Syndrome
  • Nephronophthisis
  • Senior-Loken Syndrome
  • 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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