Hermansky-Pudlak syndrome Panel
Hermansky-Pudlak syndrome Panel
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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Using a simple at home blood sample, we can collect the 100% of your DNA and analyze the genetic sequence in our lab.
The sequence is divided into several parts, amplified, grouped in clusters and then sequenced.
This sequencing process reveals the order of nucleotides that make up the original DNA sample.
We then compare the genome with a generic and globally recognized reference DNA sequence.
Simple Blood Sample Collection
Painless, quick at home sample collection. User friendly device with CE-IVD mark and FDA approval.
Simply follow the packaging instructions and send the sample back using the pre-paid returns label.
Genomic Consultation Service
Would you like to speak with a genetic specialist? Book an individual session.
Our extensive network of geneticists will provide you with specialized genetic counseling on the topics that are most relevant for you such as diet and nutrition, fitness, injuries and many more.
Check out the full range of our additional reports, available upon completion of the Genome Test.