HPS4 Gene Hermansky Pudlak Syndrome Type 4 Genetic Test
Components
- Test Name: HPS4 Gene Hermansky Pudlak Syndrome Type 4 Genetic Test
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
- Test Type: Ophthalmology Disorders
- Doctor: Ophthalmologist
- Test Department: Genetics
- Pre Test Information: Clinical History of Patient who is going for HPS4 Gene Hermansky Pudlak Syndrome Type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HPS4 Gene Hermansky Pudlak Syndrome Type 4 NGS Genetic DNA Test gene HPS4
Test Details
The HPS4 gene is responsible for producing a protein that is involved in the formation and function of specialized cell structures called lysosomes and related organelles. Mutations in this gene can lead to Hermansky-Pudlak syndrome type 4, a rare genetic disorder characterized by albinism, bleeding disorders, and lung and bowel problems.
NGS genetic testing can identify mutations in the HPS4 gene, allowing for early diagnosis and appropriate management of the condition. This type of testing uses next-generation sequencing technology to analyze the entire gene sequence, providing a comprehensive view of any potential mutations or variations. It can be performed using a blood or saliva sample, and results are typically available within a few weeks.
Test Name | HPS4 Gene Hermansky Pudlak syndrome type 4 Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Ophthalmology Disorders |
Doctor | Ophthalmologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for HPS4 Gene Hermansky Pudlak syndrome type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HPS4 Gene Hermansky Pudlak syndrome type 4 NGS Genetic DNA Test gene HPS4 |
Test Details |
The HPS4 gene is responsible for producing a protein that is involved in the formation and function of specialized cell structures called lysosomes and related organelles. Mutations in this gene can lead to Hermansky-Pudlak syndrome type 4, a rare genetic disorder characterized by albinism, bleeding disorders, and lung and bowel problems. NGS genetic testing can identify mutations in the HPS4 gene, allowing for early diagnosis and appropriate management of the condition. This type of testing uses next-generation sequencing technology to analyze the entire gene sequence, providing a comprehensive view of any potential mutations or variations. It can be performed using a blood or saliva sample, and results are typically available within a few weeks. |