Short Description

NGS genetic DNA test detecets for variant and mutation detection in GNE gene for Inclusion body myopathy

PreTest 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

Detail Description

GNE Gene Inclusion Body Myopathy NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Inclusion body myopathy (IBM) is a group of rare muscle disorders characterized by muscle weakness and wasting. One of the types of IBM is GNE gene inclusion body myopathy, which is caused by mutations in the GNE gene. The GNE gene provides instructions for making an enzyme that is involved in the production of a sugar called sialic acid.

NGS (next-generation sequencing) genetic DNA testing is a highly advanced diagnostic tool that enables the detection of genetic mutations associated with various diseases, including GNE gene inclusion body myopathy. The cost of NGS genetic DNA testing for GNE gene inclusion body myopathy in India is approximately INR 20,000.

Symptoms of GNE Gene Inclusion Body Myopathy

The symptoms of GNE gene inclusion body myopathy typically develop in early adulthood, between the ages of 20 and 40. The initial symptoms may include:

• Muscle weakness and wasting in the hips and thighs
• Difficulty walking and climbing stairs
• Frequent falls

Over time, the muscle weakness and wasting may spread to other parts of the body, including the arms and shoulders. Other symptoms may include:

• Difficulty gripping objects
• Difficulty swallowing
• Difficulty breathing
• Facial weakness
• Vision problems

Diagnosis of GNE Gene Inclusion Body Myopathy

Diagnosis of GNE gene inclusion body myopathy involves a combination of clinical evaluation, genetic testing, and muscle biopsy. Clinical evaluation involves a physical examination and a review of the patient's medical history. Genetic testing involves the analysis of DNA samples to detect mutations in the GNE gene. Muscle biopsy involves the removal of a small sample of muscle tissue for laboratory analysis.

Conclusion

GNE gene inclusion body myopathy is a rare muscle disorder that can cause significant disability. NGS genetic DNA testing is a highly advanced diagnostic tool that enables the detection of genetic mutations associated with GNE gene inclusion body myopathy. The cost of NGS genetic DNA testing for GNE gene inclusion body myopathy in India is approximately INR 20,000. Early diagnosis and treatment are important for managing the symptoms and improving the quality of life of patients with GNE gene inclusion body myopathy.

If you suspect that you or a loved one may have GNE gene inclusion body myopathy, it is important to consult a qualified healthcare provider for a proper diagnosis and treatment plan.

At DNA Labs India, we offer comprehensive genetic testing services for a wide range of diseases and disorders, including GNE gene inclusion body myopathy. Our state-of-the-art laboratory and highly experienced team of geneticists ensure accurate and timely diagnosis of genetic conditions. For more information about our genetic testing services, please visit our website or contact us directly.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for GNE Gene Inclusion body myopathy NGS Genetic DNA Test