GNE Gene Inclusion Body Myopathy Genetic Test
At DNA Labs UAE, we offer the GNE Gene Inclusion Body Myopathy Genetic Test. This test is designed to analyze the GNE gene for mutations associated with inclusion body myopathy, a rare genetic disorder characterized by progressive muscle weakness and wasting.
Test Details
The GNE gene inclusion body myopathy (IBM) NGS genetic test utilizes next-generation sequencing (NGS) technology to sequence the entire coding region of the GNE gene. By doing so, it can identify any mutations or variants that may be present.
This test can detect various genetic changes, including single nucleotide variants, insertions, deletions, and duplications. It provides valuable information about the specific genetic changes present in an individual, which can be useful for confirming a diagnosis of inclusion body myopathy, genetic counseling, family planning, and potentially guiding treatment decisions.
It’s important to note that while this genetic test is highly informative, it may not detect all possible mutations or variants in the GNE gene. Therefore, in some cases, additional clinical evaluation and testing may be necessary even if the test results are negative.
Test Components and Price
- Test Name: GNE Gene Inclusion Body Myopathy Genetic Test
- Components: NGS Technology
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Test Type: Neurological Disorders
- Doctor: Neurologist
- Test Department: Genetics
Pre Test Information
Prior to undergoing the GNE Gene Inclusion Body Myopathy Genetic Test, it is recommended to provide the clinical history of the patient who is going for the test. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected with GNE Gene Inclusion Body Myopathy.
Symptoms and Diagnosis
Inclusion body myopathy is characterized by progressive muscle weakness and wasting. It is caused by mutations in the GNE gene, which is responsible for producing an enzyme called UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. This enzyme plays a crucial role in the production of sialic acid, a sugar molecule essential for maintaining the structure and function of muscle cells.
The GNE Gene Inclusion Body Myopathy Genetic Test helps in diagnosing inclusion body myopathy by identifying mutations or variants in the GNE gene. This information can confirm the diagnosis and provide insights into the specific genetic changes present in an individual.
Conclusion
The GNE Gene Inclusion Body Myopathy Genetic Test offered by DNA Labs UAE is a valuable tool for diagnosing inclusion body myopathy and understanding the genetic changes associated with this rare disorder. With the use of NGS technology, this test provides important information for genetic counseling, family planning, and potential treatment decisions. While it may not detect all possible mutations, it is an essential step in the diagnostic process, which may be complemented by further clinical evaluation and testing.
Test Name | GNE Gene Inclusion body myopathy 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 GNE Gene Inclusion body myopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GNE Gene Inclusion body myopathy |
Test Details |
GNE gene inclusion body myopathy (IBM) NGS genetic test is a type of genetic test that uses next-generation sequencing (NGS) technology to analyze the GNE gene for mutations associated with inclusion body myopathy. Inclusion body myopathy is a rare genetic disorder characterized by progressive muscle weakness and wasting. It is caused by mutations in the GNE gene, which provides instructions for producing an enzyme called UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. This enzyme is involved in the production of a sugar molecule called sialic acid, which is important for maintaining the structure and function of muscle cells. The NGS genetic test for GNE gene inclusion body myopathy involves sequencing the entire coding region of the GNE gene to identify any mutations or variants that may be present. This test can detect both small and large genetic changes, including single nucleotide variants, insertions, deletions, and duplications. The results of the GNE gene IBM NGS genetic test can help confirm a diagnosis of inclusion body myopathy and provide information about the specific genetic changes present in an individual. This information can be useful for genetic counseling, family planning, and potentially guiding treatment decisions. It is important to note that while the GNE gene IBM NGS genetic test can provide valuable information, it may not detect all possible mutations or variants in the GNE gene, and a negative test result does not completely rule out the presence of inclusion body myopathy. Therefore, clinical evaluation and additional testing may be necessary in some cases. |