AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test

AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test

Disease: Ophthalmology Disorders

Method: NGS Technology

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Sample Types
  • Blood or Extracted DNA or One drop Blood on FTA Card

20,000.00/- Rs ₹28,000.0028% off

  • Results in : 3 to 4 Weeks

Why to get tested at DNA Labs India for AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test ?

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AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test Cost 20000 Rs


Test Name AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test
Test type Ophthalmologist
Pre-test Information Clinical History of Patient who is going for AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test gene AP3B1
Report Delivery 3 to 4 Weeks
Components
Price ₹ 20000
Method NGS Technology

AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test Details


Short Description

NGS genetic DNA test detecets for variant and mutation detection in AP3B1 gene for Hermansky-Pudlak syndrome type 2

Test Specifications

  • Speciality: Ophthalmologist

  • Components:

  • Department: Genetics

  • Shipping Stability: Ambient Room Temperature

PreTest Information

Clinical History of Patient who is going for AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test gene AP3B1

Detail Description

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.

Frequently Asked Questions

  • What is the cost of AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test?

    Cost of AP3B1 Gene Hermansky-Pudlak syndrome type 2 NGS Genetic DNA Test is 20000 Rs

₹20,000.00 ₹28,000.0028% off

Book Now
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  • Ranked India No1 DNA Test Lab
  • Most Trusted Lab by doctors
  • 100% Accurate Test Results