HPS3 Gene Hermansky Pudlak Syndrome Type 3 NGS Genetic DNA Test
Introduction to the HPS3 Gene Test
The HPS3 Gene Hermansky Pudlak Syndrome Type 3 NGS Genetic DNA Test is a cutting-edge diagnostic tool that utilizes Next-Generation Sequencing (NGS) technology to identify mutations in the HPS3 gene. This test plays a crucial role in diagnosing Hermansky-Pudlak syndrome, a rare genetic disorder characterized by a combination of visual impairment, bleeding problems, and albinism. Early detection through this test can significantly enhance the management and treatment of affected individuals.
What the Test Measures
This genetic test specifically measures alterations in the HPS3 gene, which is vital for the proper functioning of cellular organelles involved in pigmentation and platelet function. By identifying these genetic mutations, healthcare providers can offer tailored treatment plans and genetic counseling to patients and their families.
Who Should Consider This Test?
Individuals who may benefit from the HPS3 Gene test include:
- Those with a family history of Hermansky-Pudlak syndrome.
- Patients exhibiting symptoms such as visual disturbances, unexplained bleeding, or skin pigmentation issues.
- Individuals seeking genetic counseling or planning to start a family.
Benefits of Taking the Test
Taking the HPS3 Gene test offers several benefits:
- Early diagnosis of Hermansky-Pudlak syndrome, allowing for timely intervention.
- Informed family planning decisions for those with a genetic predisposition.
- Access to specialized care and management strategies tailored to individual needs.
Understanding Your Results
Results from the HPS3 Gene test will be provided within 3 to 4 weeks. A genetic counselor will assist in interpreting the results, explaining the implications of any detected mutations, and discussing potential next steps.
Pricing Information
| Test Name | Discount Price (KSh) | Regular Price (KSh) |
|---|---|---|
| HPS3 Gene Hermansky Pudlak Syndrome Type 3 NGS Genetic DNA Test | 40,000 | 56,000 |
Book Your Test Today!
We have branches across all major cities in Kenya, including Nairobi, Mombasa, and Kisumu, and we also offer a convenient home sample collection service. To book the HPS3 Gene Hermansky Pudlak Syndrome Type 3 NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
Pre-Test Instructions
Before undergoing the test, it is essential to have a clinical history of the patient. A genetic counseling session is recommended to draw a pedigree chart of family members affected by the HPS3 gene.
