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
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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.
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*Raw data will be available free of charge for the first 30 days after release.
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