Citrullinemia Report



Alterations in the urea cycle can lead to the accumulation of substances that are toxic to the body, such as ammonia. This molecule, with its mainly neurotoxic effects, is responsible for the typical clinical picture of citrullinemia. These alterations concern the activity of enzymes involved in chemical reactions aimed at converting ammonia into urea, a harmless compound destined for urinary excretion.

2 genes analyzed

It is recommended if:

This test is useful for those with strongly increased values ​​of plasma citrulline, while only slightly increased values ​​may be associated with healthy carrier status or other conditions that fall within the defects of the urea cycle. The molecular analysis allows genetic confirmation, recognition of healthy carriers and possible prenatal diagnosis.

List of main conditions:

  • Citrullinemia
  • Citrullinemia, adult-onset type II
  • Citrullinemia, type II, neonatal-onset
  • 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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