Short Description

NGS genetic DNA test detecets for variant and mutation detection in NEB gene for Nemaline myopathy type 2, autosomal recessive

PreTest Information

Clinical History of Patient who is going for NEB Gene Nemaline myopathy type 2, autosomal recessive NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NEB Gene Nemaline myopathy type 2, autosomal recessive

Detail Description

NEB Gene Nemaline Myopathy Type 2: Symptoms, Diagnosis, and Cost of Autosomal Recessive NGS Genetic DNA Test

Nemaline myopathy (NM) is a rare genetic disorder that affects the skeletal muscles. There are several types of NM, and one of them is NEB Gene Nemaline Myopathy Type 2. It is an autosomal recessive disorder that is caused by a mutation in the NEB gene. This gene provides instructions for making a protein called nebulin, which is essential for muscle function.

Symptoms

The symptoms of NEB Gene Nemaline Myopathy Type 2 can vary in severity. Some common symptoms include:

• Muscle weakness and fatigue
• Delayed motor development
• Difficulty breathing
• Scoliosis
• Joint contractures
• Abnormal curvature of the spine
• Difficulty swallowing

These symptoms can appear at different ages, and the severity of the symptoms can vary from person to person. In some cases, the symptoms may be mild and not noticeable until later in life.

Diagnosis

NEB Gene Nemaline Myopathy Type 2 can be diagnosed through genetic testing. The most common test used is Next-Generation Sequencing (NGS) Genetic DNA Test. This test looks for mutations in the NEB gene that are associated with NM. It is a highly accurate test that can detect even small mutations in the gene.

In addition to genetic testing, a muscle biopsy may also be performed to confirm the diagnosis. This involves taking a small sample of muscle tissue and examining it under a microscope to look for the presence of nemaline rods, which are characteristic of NM.

Cost of Autosomal Recessive NGS Genetic DNA Test

The cost of Autosomal Recessive NGS Genetic DNA Test for NEB Gene Nemaline Myopathy Type 2 in India is around INR 20,000. However, the cost may vary depending on the laboratory and location.

Conclusion

NEB Gene Nemaline Myopathy Type 2 is a rare genetic disorder that can cause muscle weakness and other symptoms. It can be diagnosed through genetic testing and muscle biopsy. The cost of Autosomal Recessive NGS Genetic DNA Test for NEB Gene Nemaline Myopathy Type 2 in India is around INR 20,000. If you or someone you know is experiencing symptoms of NM, it is important to consult a doctor and get tested to determine the underlying cause.

At DNA Labs India, we offer a wide range of genetic tests, including Autosomal Recessive NGS Genetic DNA Test for NEB Gene Nemaline Myopathy Type 2. Our tests are highly accurate and affordable, and we provide expert counseling to help you understand the results and make informed decisions about your health. Contact us today to learn more.

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 NEB Gene Nemaline myopathy type 2, autosomal recessive NGS Genetic DNA Test