Panel zur hereditären Vitreoretinopathie
HV sind eine Gruppe angeborener Netzhaut- und Glaskörperdegenerationen, die durch genetische Mutationen in mehr als 20 Genen verursacht werden und durch ein hohes Risiko einer Netzhautablösung, eines frühen Katarakts, eines optisch leeren Glaskörpers und einer Neovaskularisation gekennzeichnet sind. Unter den beteiligten Genen finden wir solche, die für Kollagen und den Kaliumkanal kodieren.
Dieses Panel richtet sich an Personen mit einer familiären Vorgeschichte von erblichen Vitreoretinopathien oder Symptomen von Erkrankungen wie frühem Katarakt und Netzhautablösung.
Die Analyse berücksichtigt die Mutation der Keimbahn-DNA und untersucht SNP- und Indel-Mutationen bis zu 150 bp.
- Verfügbar in weniger als 24 Stunden
- Basierend auf der Sequenzierung des gesamten Genoms
- Mehr als 20 Gene analysiert
- Untersucht SNP- und Indel-Mutationen bis zu 150 bp
Liste der Hauptbedingungen:
- Familiäre exsudative Vitreoretinopathie
- Stickler-Syndrom
- Schneeflocken-vitreoretinale Degeneration
Simple workflow
*To generate this report, a sequencing test is mandatory. If you have not yet acquired a sequencing test, kindly make the purchase at this link: Dante Genome Test now!
Purchase your report adding your kit ID in the checkout notes.*
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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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