Cystinuria Report - Dante Labs World
Cystinuria Report - Dante Labs World
This product is only meant for customers who already purchased a Dante Genome Test

Report sobre la cistinuria

Dhs. 118.00
La cistinuria es una enfermedad rara que afecta al sistema excretor, causada por la acumulación del aminoácido cistina en los riñones y la vejiga. En condiciones fisiológicas, esta molécula es reabsorbida por el torrente sanguíneo en el proceso de formación de la orina, pero, debido a las mutaciones genéticas subyacentes a esta enfermedad, la proteína transportadora responsable de su recuperación no es funcional: como resultado, la cistina tenderá a acumularse en la orina y, en el caso de una orina muy concentrada, a cristalizar y formar cálculos en el riñón y la vejiga. También es posible que la cistina se una al calcio, formando agregados más grandes capaces de obstruir el tracto urinario y causar infecciones.
La cistinuria está causada por mutaciones en los genes SLC3A1 y SLC7A9 que codifican, como se ha descrito anteriormente, las proteínas responsables de la reabsorción de la cistina. Su modo de transmisión es autosómico recesivo y, si se trata correctamente, tiene un pronóstico favorable: la insuficiencia renal, de hecho, es una complicación bastante rara.
  • Available in less than 24 hours
  • Based on Whole Genome Sequencing
  • Investigates SNP and Indel mutations up to 150 bp

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FAQs

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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