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. |