Hermansky-Pudlak Syndrome Report
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome is a rare genetic disorder that affects various organs and tissues, including the lungs, skin, and eyes. Hermansky-Pudlak syndrome is caused by mutations in genes involved in the formation and function of specialized cell structures called lysosomes and melanosomes, and this report tests for genetic variants that are known to affect these processes.
10 genes analyzed
It is recommended if:
This report is designed for individuals with a family history of Hermansky-Pudlak syndrome or individuals with symptoms of the condition, such as lung disease, skin abnormalities, and vision problems. Genetic testing can confirm a diagnosis, provide information on disease severity and progression, and inform treatment and management decisions. Testing can also inform family planning decisions and provide reassurance for unaffected family members.
List of main conditions:
- Hermansky-Pudlak syndrome
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.*
Get a Dante Genome Test
Access your Genome Manager account to view your new reports!
Genome Manager portal
You can purchase reports in the Genome Manager to skip step 1
Genome Manager portal
Additional Reports
Choose a report's category:
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.
Our certifications
