Panel de Síndrome de Noonan
Este panel analiza mutaciones en genes asociados con el síndrome de Noonan, un trastorno genético que afecta muchas áreas del cuerpo. El síndrome de Noonan se caracteriza por rasgos faciales característicos, baja estatura, defectos cardíacos y retrasos en el desarrollo. Las pruebas pueden ayudar a diagnosticar la afección, identificar la causa genética e informar el manejo médico y el apoyo para las personas afectadas y sus familias.
Individuos que tienen síntomas del síndrome de Noonan o antecedentes familiares de la afección. Esto puede incluir personas con rasgos faciales característicos, baja estatura, defectos cardíacos o retrasos en el desarrollo.
El análisis tiene en cuenta la mutación del ADN de la línea germinal, investiga mutaciones de SNP e Indel hasta 150 pb.
- Disponible en menos de 24 horas
- Basado en la secuenciación del genoma completo
- Más de 10 genes analizados
- Investiga mutaciones SNP e Indel de hasta 150 pb
Lista de condiciones principales:
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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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