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POLR3B Gene Leukodystrophy hypomyelinating type 8 Genetic Test

4,400 د.إ

-21%

The POLR3B Gene Leukodystrophy hypomyelinating type 8 Genetic Test is a specialized diagnostic examination aimed at identifying mutations in the POLR3B gene, which are linked to a rare form of leukodystrophy known as hypomyelinating leukodystrophy type 8. This condition is characterized by a significant reduction in the white matter in the brain, which affects the myelin sheath, the material that surrounds and protects nerve fibers. As a result, individuals with this condition often experience a range of neurological symptoms, including motor and cognitive impairments.

The test is performed by DNA Labs UAE, a leading genetic testing facility in the United Arab Emirates known for its state-of-the-art technology and expertise in genetic diagnostics. The cost of the test is set at 4400 AED, reflecting the comprehensive analysis and detailed reporting provided by the lab. This test is crucial for families seeking answers about this genetic condition, as it not only confirms the diagnosis but also helps in understanding the disease progression, potential treatments, and management strategies. It is a vital tool in the field of personalized medicine, offering hope and support to affected individuals and their families.

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POLR3B Gene Leukodystrophy hypomyelinating type 8 Genetic Test

Welcome to DNA Labs UAE, where we offer comprehensive genetic testing services. In this blog, we will discuss the POLR3B Gene Leukodystrophy hypomyelinating type 8 Genetic Test, including its components, cost, symptoms, diagnosis, and more.

Test Details

The POLR3B gene is responsible for providing instructions to make an enzyme called RNA polymerase III subunit B. This enzyme plays a crucial role in the transcription of DNA into RNA molecules. Leukodystrophy hypomyelinating type 8 (also known as 4H leukodystrophy) is a rare genetic disorder that affects the development of myelin, the protective covering of nerve fibers in the central nervous system. Mutations in the POLR3B gene have been associated with this type of leukodystrophy.

NGS Technology

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced technology to analyze multiple genes simultaneously. It allows for the detection of various genetic mutations, including those in the POLR3B gene, in a more efficient and cost-effective manner. A NGS genetic test for POLR3B gene mutations can help diagnose leukodystrophy hypomyelinating type 8 and provide valuable information for genetic counseling and management of the condition.

Test Components and Price

The POLR3B Gene Leukodystrophy hypomyelinating type 8 Genetic Test is priced at 4400.0 AED. The test requires a sample of either blood or extracted DNA, or one drop of blood on an FTA card. The report delivery time is approximately 3 to 4 weeks. The test is conducted in our Genetics department using NGS technology.

Symptoms and Diagnosis

Leukodystrophy hypomyelinating type 8 is characterized by the abnormal development of myelin. Symptoms may include delayed motor skills, intellectual disability, speech difficulties, and muscle weakness. To diagnose this condition, a patient’s clinical history is taken into consideration. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected with POLR3B Gene Leukodystrophy hypomyelinating type 8.

Conclusion

The POLR3B Gene Leukodystrophy hypomyelinating type 8 Genetic Test offered by DNA Labs UAE is a valuable tool for diagnosing and managing this rare genetic disorder. With our NGS technology, we can efficiently analyze the POLR3B gene and provide accurate results. It is important to undergo genetic testing under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and interpretation of the results.

Test Name POLR3B Gene Leukodystrophy hypomyelinating type 8 Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for POLR3B Gene Leukodystrophy hypomyelinating type 8 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POLR3B Gene Leukodystrophy hypomyelinating type 8
Test Details

The POLR3B gene is responsible for providing instructions to make an enzyme called RNA polymerase III subunit B. This enzyme plays a crucial role in the transcription of DNA into RNA molecules.

Leukodystrophy hypomyelinating type 8 (also known as 4H leukodystrophy) is a rare genetic disorder that affects the development of myelin, the protective covering of nerve fibers in the central nervous system. Mutations in the POLR3B gene have been associated with this type of leukodystrophy.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced technology to analyze multiple genes simultaneously. It allows for the detection of various genetic mutations, including those in the POLR3B gene, in a more efficient and cost-effective manner.

A NGS genetic test for POLR3B gene mutations can help diagnose leukodystrophy hypomyelinating type 8 and provide valuable information for genetic counseling and management of the condition. It involves collecting a sample of DNA, usually through a blood sample, and analyzing it in a laboratory using NGS technology. The test results can identify specific mutations in the POLR3B gene that may be causing the disease.

It is important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and interpretation of the results.