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Accurate Test Results for AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test
AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test Cost 20000 Rs
AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test Details
AP3B1 Gene Hermansky-Pudlak Syndrome Type 2 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis
DNA Labs India is a leading genetic testing laboratory that offers a wide range of genetic tests to diagnose and treat various genetic disorders. One such test is the AP3B1 Gene Hermansky-Pudlak Syndrome Type 2 NGS Genetic DNA Test, which is designed to diagnose Hermansky-Pudlak Syndrome Type 2 (HPS2), a rare genetic disorder that affects various organs of the body.
What is Hermansky-Pudlak Syndrome Type 2?
Hermansky-Pudlak Syndrome Type 2 is a rare genetic disorder that affects various organs of the body, including the lungs, eyes, and skin. It is caused by mutations in the AP3B1 gene, which encodes for a protein that is involved in the formation of lysosomes and other cellular structures.
People with HPS2 have abnormal platelets, which can cause bleeding problems. They also have lung fibrosis, which can lead to respiratory failure, and vision problems due to the accumulation of pigment in the retina. HPS2 can also affect the skin, causing albinism and easy bruising.
Symptoms of Hermansky-Pudlak Syndrome Type 2
The symptoms of HPS2 can vary from person to person, but some common symptoms include:
- Bleeding problems
- Lung fibrosis
- Visual impairment
- Albinism
- Easy bruising
Diagnosis of Hermansky-Pudlak Syndrome Type 2
Diagnosing HPS2 can be challenging because it is a rare disorder and the symptoms can be similar to other conditions. However, genetic testing can be done to confirm the diagnosis.
The AP3B1 Gene Hermansky-Pudlak Syndrome Type 2 NGS Genetic DNA Test offered by DNA Labs India is a comprehensive genetic test that can identify mutations in the AP3B1 gene. This test uses Next-Generation Sequencing (NGS) technology, which allows for the simultaneous analysis of multiple genes. The test is highly accurate and can detect even small genetic changes.
Cost of AP3B1 Gene Hermansky-Pudlak Syndrome Type 2 NGS Genetic DNA Test
The cost of the AP3B1 Gene Hermansky-Pudlak Syndrome Type 2 NGS Genetic DNA Test at DNA Labs India is INR 20000. This includes the cost of the test, genetic counseling, and a detailed report with the test results.
Conclusion
Hermansky-Pudlak Syndrome Type 2 is a rare genetic disorder that can cause a variety of symptoms, including bleeding problems, lung fibrosis, and visual impairment. Genetic testing can be done to confirm the diagnosis, and the AP3B1 Gene Hermansky-Pudlak Syndrome Type 2 NGS Genetic DNA Test offered by DNA Labs India is a highly accurate and comprehensive test that can identify mutations in the AP3B1 gene. The cost of the test is INR 20000, which includes genetic counseling and a detailed report with the test results.
If you or someone you know is experiencing symptoms of HPS2, it is important to seek medical attention and consider genetic testing. DNA Labs India is a trusted and reliable genetic testing laboratory that can help diagnose and treat various genetic disorders.