Hermansky-Pudlak syndrome Panel

This product is only meant for customers who already purchased a Dante Genome Test

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and specific other organ involvement of certain types.
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 panel tests for genetic variants that are known to affect these processes.
This panel 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.

The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.

  • Available in less than 24 hours
  • Based on Whole Genome Sequencing
  • 10 genes analyzed
  • Investigates SNP and Indel mutations up to 150 bp

List of main conditions:
  • Hermansky-Pudlak syndrome

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