Gremium für Charcot-Marie-Tooth-Krankheit
Charcot-Marie-Tooth ist eine genetisch komplexe Erkrankung, die autosomal-dominant, rezessiv und X-chromosomal vererbt werden kann. Die zugrunde liegenden Mutationen, die mehrere Gene betreffen können, beeinträchtigen die Funktionen der peripheren Nerven der Beine, Füße und Hände und verursachen sensorische und motorische Neuropathien mit schwerwiegenden Folgen für die Übertragung von Nervenimpulsen an die Muskeln.
Für Familienplanungszwecke und zur Familienanamnese dieser Erkrankung
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 75 Gene analysiert
- Untersucht SNP- und Indel-Mutationen bis zu 150 bp
Liste der Hauptbedingungen:
- Charcot-Marie-Tooth-Krankheit, axonaler Typ 2n
- Charcot-Marie-Tooth-Krankheit, Typ 4H
- Neuropathie, erbliche sensorische und autonome
- Charcot-Marie-Tooth-Krankheit, dominantes intermediäres C
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.
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