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HPS3 Gene Hermansky-Pudlak syndrome type 3 Genetic Test

4,400 د.إ

-21%

The Hermansky-Pudlak Syndrome type 3 (HPS3) genetic test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify mutations in the HPS3 gene. This gene is crucial for the proper formation of lysosomes and related organelles in cells, and mutations can lead to Hermansky-Pudlak syndrome (HPS), a rare autosomal recessive disorder. HPS is characterized by a lack of pigment in the skin, hair, and eyes (albinism), a propensity for bleeding due to platelet abnormalities, and in some cases, lung and bowel diseases. Identifying mutations in the HPS3 gene through this test can provide definitive diagnosis of HPS type 3, enabling targeted management and treatment strategies for affected individuals. The cost of the HPS3 gene test at DNA Labs UAE is 4400 AED, reflecting the specialized nature of this genetic analysis and its significance in providing critical health information.

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HPS3 Gene Hermansky-Pudlak syndrome type 3 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 HPS3 Gene Hermansky-Pudlak syndrome type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HPS3 Gene Hermansky-Pudlak syndrome type 3 NGS Genetic DNA Test gene HPS3

Test Details:

Hermansky-Pudlak syndrome type 3 (HPS3) is a rare genetic disorder that affects multiple organ systems, including the skin, eyes, lungs, and platelets. It is caused by mutations in the HPS3 gene, which encodes a protein involved in the formation of specialized cellular structures called melanosomes, responsible for producing and distributing pigment in the skin, hair, and eyes.

NGS (Next Generation Sequencing) genetic testing can be used to detect mutations in the HPS3 gene, allowing for accurate diagnosis of HPS3 and genetic counseling for affected individuals and their families. This test involves sequencing the entire coding region of the HPS3 gene, as well as adjacent non-coding regions, to identify any genetic variants associated with HPS3.

NGS genetic testing for HPS3 is typically recommended for individuals with symptoms of the disorder, such as oculocutaneous albinism, bleeding disorders, and lung disease, as well as for individuals with a family history of HPS3. Testing may also be recommended for individuals with unexplained symptoms that may be related to HPS3, such as recurrent infections, inflammatory bowel disease, or kidney disease.

Overall, NGS genetic testing for HPS3 can provide valuable information for diagnosis, treatment, and genetic counseling for affected individuals and their families.

Test Name HPS3 Gene Hermansky-Pudlak syndrome type 3 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 HPS3 Gene Hermansky-Pudlak syndrome type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HPS3 Gene Hermansky-Pudlak syndrome type 3 NGS Genetic DNA Test gene HPS3
Test Details

Hermansky-Pudlak syndrome type 3 (HPS3) is a rare genetic disorder that affects multiple organ systems, including the skin, eyes, lungs, and platelets. It is caused by mutations in the HPS3 gene, which encodes a protein involved in the formation of specialized cellular structures called melanosomes, which are responsible for producing and distributing pigment in the skin, hair, and eyes.

NGS (Next Generation Sequencing) genetic testing can be used to detect mutations in the HPS3 gene, allowing for accurate diagnosis of HPS3 and genetic counseling for affected individuals and their families. This test involves sequencing the entire coding region of the HPS3 gene, as well as adjacent non-coding regions, to identify any genetic variants that may be associated with HPS3.

NGS genetic testing for HPS3 is typically recommended for individuals who have symptoms of the disorder, such as oculocutaneous albinism, bleeding disorders, and lung disease, as well as for individuals with a family history of HPS3. Testing may also be recommended for individuals with unexplained symptoms that may be related to HPS3, such as recurrent infections, inflammatory bowel disease, or kidney disease.

Overall, NGS genetic testing for HPS3 can provide valuable information for diagnosis, treatment, and genetic counseling for affected individuals and their families.