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HPS4 Gene Hermansky Pudlak syndrome type 4 Genetic Test

4,400 د.إ

-21%

The HPS4 gene Hermansky-Pudlak syndrome type 4 genetic test is a specialized diagnostic procedure aimed at identifying mutations in the HPS4 gene, which are responsible for causing Hermansky-Pudlak syndrome (HPS) type 4. This rare genetic disorder is characterized by a lack of pigmentation (albinism), bleeding disorders, and lung and bowel diseases. The test is crucial for early diagnosis, allowing for appropriate management and treatment of the condition.

Performed at DNA Labs UAE, a leading facility in genetic diagnostics, the test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed for specific mutations in the HPS4 gene. The results can help in confirming the diagnosis, understanding the severity of the disorder, and informing patients and families about potential complications and the risk of passing the condition to future generations.

The cost of the HPS4 gene Hermansky-Pudlak syndrome type 4 genetic test at DNA Labs UAE is 4400 AED. Given the complexity of the test and the specialized technology and expertise required to interpret the results accurately, the price reflects the comprehensive analysis and detailed report provided to patients or their healthcare providers. This test is an essential tool for individuals with a family history of HPS or related symptoms, guiding their healthcare decisions and improving their quality of life through tailored medical care.

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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.