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GJB1 Gene CMTX1 Genetic Test

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

-21%

The GJB1 gene CMTX1 genetic test is a specialized diagnostic tool used to identify mutations in the GJB1 gene, which are associated with Charcot-Marie-Tooth disease type X1 (CMTX1). CMTX1 is a form of Charcot-Marie-Tooth disease, a group of inherited disorders that affect the peripheral nerves, leading to muscle weakness and atrophy, as well as sensory loss. The GJB1 gene encodes a protein called connexin-32, which is crucial for the proper functioning of peripheral nerves.

The test is conducted through a blood sample or a cheek swab, which is then analyzed in a laboratory setting to detect any genetic abnormalities in the GJB1 gene. This genetic test is vital for the accurate diagnosis of CMTX1, allowing for appropriate management and treatment plans for affected individuals. It also provides essential information for family planning and genetic counseling for families with a history of Charcot-Marie-Tooth disease.

In the United Arab Emirates, this specific genetic test is available at DNA Labs UAE, a reputable facility known for its advanced genetic testing services. The cost of the GJB1 gene CMTX1 genetic test at DNA Labs UAE is 4400 AED. This cost includes the price of the test itself, as well as the professional services involved in the analysis and interpretation of the results. Patients seeking this test can expect a high standard of accuracy and confidentiality, along with comprehensive support throughout the testing process.

Home  Sample collection service available

  • 100% accuaret Test Results
  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
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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.