Amyloidogenes Transthyretin-Amyloidose-Panel
Die dieser Erkrankung zugrunde liegenden Genmutationen führen zu einer abnormalen Ablagerung veränderter Proteine im Gewebe, die dazu neigen, unlösliche Aggregate zu bilden. Diese Ablagerungen befallen vor allem den Gehirn- und Herzbereich und führen zu schweren Organstörungen.
Dieser Test ist für Personen mit klinischem Verdacht auf eine amyloidogene Transthyretin-Amyloidose oder mit einer positiven Familienanamnese der Krankheit indiziert, um die Diagnose zu bestätigen oder das persönliche genetische Risiko und das Übertragungsrisiko zu kennen.
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 4 Gene analysiert
- Untersucht SNP- und Indel-Mutationen bis zu 150 bp
Liste der Hauptbedingungen:
- Hypertrophe Kardiomyopathie
- Amyloidose, erblich, Transthyretin-bedingt
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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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.
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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.
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*Raw data will be available free of charge for the first 30 days after release.
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