Informe sobre el síndrome miasténico congénito

€29.00

Este producto está destinado únicamente a los clientes que ya
compraron una prueba MyGenome

El informe sobre el síndrome miasténico congénito se basa en la prueba de secuenciación del genoma completo. Como tal, analiza todas las Variantes Comunes y Raras asociadas al Síndrome Miasténico Congénito en lugar de un conjunto limitado de genes, como los antiguos paneles de objetivos genéticos.

El síndrome miasténico congénito es un grupo de afecciones caracterizadas por la debilidad muscular (miastenia) que empeora con el esfuerzo físico.

Junto con los factores ambientales, La genética desempeña un papel clave en la regulación del síndrome miasténico congénito .

  • 29 genes analizados
  • 100% de regiones genómicas cubiertas
  • Regiones intragénicas e intergénicas analizadas
  • Todas las variantes reportadas


Haga clic aquí para leer la lista completa de los genes analizados en este informe


  • 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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