Report sobre la neuropatía óptica hereditaria

Dhs. 117.00

El término "Neuropatías Ópticas Hereditarias" indica un conjunto de manifestaciones atróficas y degenerativas del nervio óptico, con diferentes modos de transmisión genética. Incluyen: Neuropatía Óptica Autosómica Dominante, la forma más común, caracterizada por una deficiencia visual precoz que se presenta en la primera infancia y se estabiliza alrededor de los 10 años de edad. El déficit visual es bilateral y se acompaña de una alteración de la percepción de los colores (discromatopsia); la Neuropatía Óptica Autosómica Recesiva, extremadamente rara, se manifiesta desde el nacimiento o en los primeros años de vida con una severa reducción bilateral de la agudeza visual, hasta la ceguera; la Neuropatía Óptica Hereditaria de Leber (LHON), afecta predominantemente a adultos jóvenes de sexo masculino y tiene una transmisión mitocondrial. La deficiencia visual puede ser aguda o subaguda, mono o bilateral, pero es progresiva. Su entidad está relacionada con el porcentaje de mito

  • Available in less than 24 hours
  • Based on Whole Genome Sequencing
  • Investigates SNP and Indel mutations up to 150 bp

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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