CLCN4 Gene Raynaud-Claes Syndrome Genetic Test
Welcome to DNA Labs UAE, your trusted genetic testing laboratory. We offer the CLCN4 Gene Raynaud-Claes Syndrome Genetic Test to help diagnose and provide insights into this rare genetic disorder.
Test Details
The CLCN4 gene is responsible for encoding a protein called chloride channel 4, which plays a crucial role in regulating chloride ion transport across cell membranes. Mutations in the CLCN4 gene have been associated with Raynaud-Claes syndrome, a rare genetic disorder.
Raynaud-Claes syndrome is characterized by a range of symptoms, including intellectual disability, developmental delay, facial dysmorphism (abnormal facial features), and skeletal abnormalities. It is inherited in an X-linked recessive manner, meaning that the mutation is located on the X chromosome.
To accurately diagnose Raynaud-Claes syndrome, we utilize Next-Generation Sequencing (NGS) technology. NGS genetic testing allows us to analyze multiple genes simultaneously and identify any mutations or variations that may be associated with the disorder. Specifically, we focus on analyzing the CLCN4 gene to identify any pathogenic mutations that may be present.
Test Components
- Test Name: CLCN4 Gene Raynaud-Claes Syndrome 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: Neurological Disorders
- Doctor: Neurologist
- Test Department: Genetics
- Pre Test Information: Clinical History of Patient who is going for CLCN4 Gene Raynaud-Claes Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Raynaud-Claes syndrome.
Benefits of CLCN4 Gene Raynaud-Claes Syndrome Genetic Test
By undergoing the CLCN4 Gene Raynaud-Claes Syndrome Genetic Test, you can gain several benefits:
- Accurate diagnosis of Raynaud-Claes syndrome
- Proper genetic counseling for affected individuals and their families
- Potential guidance for treatment decisions
At DNA Labs UAE, we are committed to providing you with reliable and comprehensive genetic testing services. Our team of experienced professionals, including neurologists and geneticists, ensure accurate results and personalized care.
Don’t wait any longer. Contact DNA Labs UAE today to schedule your CLCN4 Gene Raynaud-Claes Syndrome Genetic Test. Early diagnosis and intervention can make a significant difference in the lives of those affected by this genetic disorder.
Test Name | CLCN4 Gene Raynaud-Claes syndrome 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 CLCN4 Gene Raynaud-Claes syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CLCN4 Gene Raynaud-Claes syndrome |
Test Details |
The CLCN4 gene is responsible for encoding a protein called chloride channel 4, which is involved in the regulation of chloride ion transport across cell membranes. Mutations in the CLCN4 gene have been associated with a rare genetic disorder known as Raynaud-Claes syndrome. Raynaud-Claes syndrome is characterized by a variety of symptoms, including intellectual disability, developmental delay, facial dysmorphism (abnormal facial features), and skeletal abnormalities. It is inherited in an X-linked recessive manner, meaning that the mutation is located on the X chromosome. NGS (Next-Generation Sequencing) genetic testing is a powerful tool used to analyze multiple genes simultaneously and identify mutations or variations that may be associated with a specific disorder. In the case of Raynaud-Claes syndrome, NGS can be used to analyze the CLCN4 gene and identify any pathogenic mutations that may be present. By performing NGS genetic testing for Raynaud-Claes syndrome, healthcare professionals can provide an accurate diagnosis, offer appropriate genetic counseling, and potentially guide treatment decisions for affected individuals and their families. |