AP3B1 Gene Hermansky-Pudlak syndrome type 2 Genetic Test
Components: AP3B1 Gene Hermansky-Pudlak syndrome type 2 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 AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test gene AP3B1
Test Details: The AP3B1 gene is associated with Hermansky-Pudlak syndrome type 2 (HPS2), which is a rare genetic disorder that affects the pigmentation of the skin, hair, and eyes, as well as the function of certain organs such as the lungs and intestines. NGS (next-generation sequencing) genetic testing can be used to analyze the DNA sequence of the AP3B1 gene and identify any mutations or variations that may be associated with HPS2. This type of testing can help diagnose the condition and provide important information for genetic counseling and family planning. It is important to note that genetic testing for HPS2 should be performed by a qualified healthcare provider or genetic counselor, as the interpretation of test results can be complex and require specialized knowledge.
Test Name | AP3B1 Gene Hermansky-Pudlak syndrome type 2 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 AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test gene AP3B1 |
Test Details |
The AP3B1 gene is associated with Hermansky-Pudlak syndrome type 2 (HPS2), which is a rare genetic disorder that affects the pigmentation of the skin, hair, and eyes, as well as the function of certain organs such as the lungs and intestines. NGS (next-generation sequencing) genetic testing can be used to analyze the DNA sequence of the AP3B1 gene and identify any mutations or variations that may be associated with HPS2. This type of testing can help diagnose the condition and provide important information for genetic counseling and family planning. It is important to note that genetic testing for HPS2 should be performed by a qualified healthcare provider or genetic counselor, as the interpretation of test results can be complex and require specialized knowledge. |