Congenital Adrenal Hyperplasia Report


Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a group of hereditary pathologies characterized by anomalies in one of the enzymes necessary for the production of three different types of hormones, such as corticosteroids, mineralocorticoids and androgens. An enzyme deficiency makes the body unable to produce one or more of these hormones.

8 genes analyzed

It is recommended if:

This test supports the identification of alterations in one of the enzymes necessary for the production of hormones produced by the adrenal glands, located in the upper part of each kidney, or for those with affected family members.

List of main conditions:

  • ACTH-independent macronodular adrenal hyperplasia 2
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
  • Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
  • Lipoid adrenal hyperplasia
  • 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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