Osteogenesis Imperfecta Report


Osteogenesis Imperfecta

Osteogenesis Imperfecta indicates a rare, congenital medical condition that affects the connective tissue of the bone. Characterized by a high phenotypic variability, OI is determined by mutations in several genes, of which COL1A1 and COL1A2 are the most involved.

More than 30 genes analyzed

It is recommended if:

This test is indicated for those who have a positive family history of the condition, which is mostly transmitted in an autosomal dominant manner, and/or for those who show signs of the pathology. Among these, bone fragility, blue sclerae, defects in dentinogenesis, scoliosis and laxity in ligaments, etc.

List of main conditions:

  • Odontohypophosphatasia
  • Ehlers-Danlos syndrome, spondylodysplastic type, 1
  • Osteogenesis imperfecta, different types
  • 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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