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HPS1 Gene Hermansky-Pudlak syndrome type 1 Genetic Test

Name: HPS1 Gene Hermansky-Pudlak syndrome type 1 Genetic Test
SKU: TEST-1007
Price: 4400 AED
Availability: InStock

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The HPS1 gene Hermansky-Pudlak syndrome type 1 genetic test is a specialized diagnostic tool used to identify mutations in the HPS1 gene, which are indicative of Hermansky-Pudlak syndrome type 1 (HPS1). HPS1 is a rare genetic disorder characterized by a lack of pigmentation (albinism), bleeding disorders, and lung and bowel diseases. It is caused by mutations in the HPS1 gene, which plays a crucial role in the formation and function of lysosomes and related organelles in cells.

This genetic test is vital for the early diagnosis and management of HPS1, allowing for appropriate interventions and treatments to mitigate the symptoms and improve the quality of life for affected individuals. Early diagnosis can also provide valuable information for family planning and genetic counseling for families with a history of the disorder.

The test is available at DNA Labs UAE, a leading facility in genetic testing and analysis. The cost of the test is 4400 AED, reflecting the specialized nature of the analysis and the expertise required to interpret the results accurately. DNA Labs UAE employs state-of-the-art technology and highly qualified professionals to ensure reliable and precise testing outcomes, making it a trusted choice for genetic diagnostics in the region.

Description

HPS1 Gene Hermansky-Pudlak Syndrome Type 1 Genetic Test

Test Name: HPS1 Gene Hermansky-Pudlak Syndrome Type 1 Genetic Test

Components: Blood or Extracted DNA or One drop Blood on FTA Card

Price: 4400.0 AED

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 HPS1 Gene Hermansky-Pudlak Syndrome Type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HPS1 Gene Hermansky-Pudlak Syndrome Type 1 NGS Genetic DNA Test gene HPS1

Test Details: HPS1 gene NGS genetic test is a diagnostic tool used to identify mutations in the HPS1 gene that causes Hermansky-Pudlak Syndrome Type 1 (HPS1). HPS1 is a rare genetic disorder that affects multiple organs, including the lungs, skin, eyes, and platelets. The condition is characterized by abnormal bleeding, albinism, and pulmonary fibrosis. The HPS1 gene provides instructions for making a protein that is involved in the formation of lysosome-related organelles, which are important for the proper functioning of cells. Mutations in this gene disrupt the formation of these organelles, leading to the symptoms of HPS1.

NGS stands for Next-Generation Sequencing, which is a high-throughput technology used to analyze DNA sequences. This test involves the analysis of the entire HPS1 gene, which allows for the detection of all possible mutations in the gene. The test is performed on a blood or saliva sample and can be ordered by a healthcare provider if HPS1 is suspected based on clinical symptoms. The results of the test can confirm a diagnosis of HPS1 and help guide treatment and management options for affected individuals.

Test Name	HPS1 Gene Hermansky-Pudlak syndrome type 1 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 HPS1 Gene Hermansky-Pudlak syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HPS1 Gene Hermansky-Pudlak syndrome type 1 NGS Genetic DNA Test gene HPS1
Test Details	HPS1 gene NGS genetic test is a diagnostic tool used to identify mutations in the HPS1 gene that causes Hermansky-Pudlak syndrome type 1 (HPS1). HPS1 is a rare genetic disorder that affects multiple organs, including the lungs, skin, eyes, and platelets. The condition is characterized by abnormal bleeding, albinism, and pulmonary fibrosis. The HPS1 gene provides instructions for making a protein that is involved in the formation of lysosome-related organelles, which are important for the proper functioning of cells. Mutations in this gene disrupt the formation of these organelles, leading to the symptoms of HPS1. NGS stands for Next-Generation Sequencing, which is a high-throughput technology used to analyze DNA sequences. This test involves the analysis of the entire HPS1 gene, which allows for the detection of all possible mutations in the gene. The test is performed on a blood or saliva sample and can be ordered by a healthcare provider if HPS1 is suspected based on clinical symptoms. The results of the test can confirm a diagnosis of HPS1 and help guide treatment and management options for affected individuals.