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BCAP31 Gene Deafness Dystonia and Cerebral Hypomyelination X-Linked Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The BCAP31 gene, located on the X chromosome, plays a crucial role in various cellular processes, including apoptosis and the transport of proteins. Mutations in this gene are associated with a rare genetic condition that manifests as a combination of symptoms, including deafness, dystonia (a movement disorder), and cerebral hypomyelination, which refers to a reduced amount of myelin in the brain. Myelin is essential for the proper functioning of the nervous system as it facilitates the rapid transmission of electrical signals along nerve cells.

The BCAP31 Gene Deafness Dystonia and Cerebral Hypomyelination X-Linked Genetic Test is a specialized diagnostic tool designed to detect mutations in the BCAP31 gene. This test is crucial for confirming the diagnosis of the condition, understanding its severity, and guiding treatment and management decisions. Early diagnosis through genetic testing can significantly impact the management of the symptoms and improve the quality of life for affected individuals.

DNA Labs UAE offers this comprehensive genetic test at a cost of 4400 AED. The test is conducted in a state-of-the-art laboratory facility, equipped with advanced genetic testing technologies to ensure accurate and reliable results. The process involves collecting a DNA sample, usually through a blood draw or a cheek swab, which is then analyzed for the presence of mutations in the BCAP31 gene. The results of the test provide valuable information for affected individuals, their families, and healthcare providers, enabling them to make informed decisions regarding treatment and care.

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BCAP31 Gene Deafness dystonia and cerebral hypomyelination X-linked Genetic Test

At DNA Labs UAE, we offer the BCAP31 Gene Deafness dystonia and cerebral hypomyelination X-linked Genetic Test. This test is designed to identify mutations in the BCAP31 gene, which is associated with a rare X-linked genetic disorder known as Deafness, Dystonia, and Cerebral Hypomyelination (DDCH).

Test Details

DDCH is characterized by a combination of hearing loss, dystonia (involuntary muscle contractions), and abnormal development of the white matter in the brain (cerebral hypomyelination). Our Next-Generation Sequencing (NGS) technology allows us to analyze multiple genes simultaneously, helping us identify genetic variations or mutations that may be responsible for this disorder.

Components

  • Test Name: BCAP31 Gene Deafness dystonia and cerebral hypomyelination X-linked 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: Ear Nose Throat Disorders
  • Doctor: ENT Doctor
  • Test Department: Genetics

Pre Test Information

Prior to undergoing the BCAP31 Gene Deafness dystonia and cerebral hypomyelination X-linked Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected with PTPN23 Gene Ciliogenesis related disorder NGS Genetic DNA Test gene PTPN34.

Benefits of the Test

By analyzing the BCAP31 gene using NGS, healthcare professionals can determine if there are any variations or mutations present that may be causing the symptoms of DDCH in an individual. This information can help with diagnosis, understanding the underlying cause of the disorder, and potentially guiding treatment options or genetic counseling for affected individuals and their families.

Conclusion

If you suspect that you or someone you know may have Deafness, Dystonia, and Cerebral Hypomyelination, our BCAP31 Gene Deafness dystonia and cerebral hypomyelination X-linked Genetic Test can provide valuable insights. Contact DNA Labs UAE today to schedule your test and take the first step towards a better understanding of your genetic health.

Test Name BCAP31 Gene Deafness dystonia and cerebral hypomyelination X-linked 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 Ear Nose Throat Disorders
Doctor ENT Doctor
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for PTPN23 Gene Ciliogenesis related disorder NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PTPN23 Gene Ciliogenesis related disorder NGS Genetic DNA Test gene PTPN34
Test Details

The BCAP31 gene is associated with a rare X-linked genetic disorder called Deafness, Dystonia, and Cerebral Hypomyelination (DDCH). This disorder is characterized by a combination of hearing loss, dystonia (involuntary muscle contractions), and abnormal development of the white matter in the brain (cerebral hypomyelination).

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify genetic variations or mutations that may be responsible for a particular disorder. In the case of DDCH, NGS genetic testing can be used to identify mutations in the BCAP31 gene.

By analyzing the BCAP31 gene using NGS, healthcare professionals can determine if there are any variations or mutations present that may be causing the symptoms of DDCH in an individual. This information can help with diagnosis, understanding the underlying cause of the disorder, and potentially guiding treatment options or genetic counseling for affected individuals and their families.

SKU: TEST-2745 Category:

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