Sale!

GNE Gene Inclusion Body Myopathy Genetic Test

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

-21%

The GNE Gene Inclusion Body Myopathy Genetic Test is a specialized diagnostic tool used to detect mutations in the GNE gene, which are responsible for a rare genetic disorder known as Inclusion Body Myopathy 2 (IBM2), also referred to as GNE Myopathy or Nonaka Myopathy. This condition is characterized by progressive muscle weakness and wasting, primarily affecting the lower limbs initially and then progressing to involve upper limbs and other muscle groups.

The test is conducted at DNA Labs UAE, a reputable facility known for its advanced genetic testing capabilities. By analyzing a patient’s DNA sample, usually obtained through a blood draw, the test identifies specific mutations in the GNE gene that cause the disorder. This precise genetic insight is crucial for confirming a diagnosis, which can then guide treatment decisions, inform patients about the progression of the disease, and help families understand the risk of inheritance.

The cost of the GNE Gene Inclusion Body Myopathy Genetic Test at DNA Labs UAE is 4400 AED. While the price may seem steep, the value of obtaining a definitive diagnosis and the potential to tailor a patient’s care plan specifically to their genetic makeup makes it a worthwhile investment for those affected by this condition. Early diagnosis through genetic testing can significantly impact the management of the disease and improve the quality of life for individuals with GNE Myopathy.

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
Guaranteed Safe Checkout

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.