GJB1 Gene CMTX1 Genetic Test
Cost: AED 4400.0
Test Components:
- Price: AED 4400.0
- 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 GJB1 Gene CMTX1 NGS Genetic DNA Test
A Genetic Counselling session to draw a pedigree chart of family members affected with GJB1 Gene CMTX1
Test Details:
The GJB1 gene CMTX1 NGS genetic test is a type of genetic test that analyzes the GJB1 gene to identify mutations that may be associated with Charcot-Marie-Tooth disease type X1 (CMTX1). CMTX1 is a type of inherited peripheral neuropathy that affects the nerves in the arms and legs, causing weakness, muscle wasting, and sensory loss. The GJB1 gene provides instructions for making a protein called connexin 32, which is important for the normal functioning of nerve cells. Mutations in the GJB1 gene can lead to a reduction in the amount or function of connexin 32, which can disrupt the communication between nerve cells and cause the symptoms of CMTX1.
The GJB1 gene CMTX1 NGS genetic test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the GJB1 gene. The test can detect a wide range of mutations, including small changes in individual DNA letters (nucleotides) and larger deletions or duplications of genetic material. The results of the GJB1 gene CMTX1 NGS genetic test can help diagnose CMTX1 and guide treatment and management decisions. Genetic counseling may also be recommended for individuals and families affected by CMTX1 to help them understand the inheritance pattern and potential risks for future generations.
Test Name | GJB1 Gene CMTX1 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 GJB1 Gene CMTX1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GJB1 Gene CMTX1 |
Test Details | The GJB1 gene CMTX1 NGS genetic test is a type of genetic test that analyzes the GJB1 gene to identify mutations that may be associated with Charcot-Marie-Tooth disease type X1 (CMTX1). CMTX1 is a type of inherited peripheral neuropathy that affects the nerves in the arms and legs, causing weakness, muscle wasting, and sensory loss. The GJB1 gene provides instructions for making a protein called connexin 32, which is important for the normal functioning of nerve cells. Mutations in the GJB1 gene can lead to a reduction in the amount or function of connexin 32, which can disrupt the communication between nerve cells and cause the symptoms of CMTX1. The GJB1 gene CMTX1 NGS genetic test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the GJB1 gene. The test can detect a wide range of mutations, including small changes in individual DNA letters (nucleotides) and larger deletions or duplications of genetic material. The results of the GJB1 gene CMTX1 NGS genetic test can help diagnose CMTX1 and guide treatment and management decisions. Genetic counseling may also be recommended for individuals and families affected by CMTX1 to help them understand the inheritance pattern and potential risks for future generations. |