Short Description

NGS genetic DNA test detecets for variant and mutation detection in MTM1 gene for Myotubular myopathy X-linked

PreTest Information

Clinical History of Patient who is going for MTM1 Gene Myotubular myopathy X-linked NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MTM1 Gene Myotubular myopathy X-linked

Detail Description

MTM1 Gene Myotubular Myopathy X-linked NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Introduction:

Myotubular myopathy is a rare genetic disorder that affects the muscles, causing them to weaken and waste away. It is caused by mutations in the MTM1 gene, which provides instructions for making a protein that is essential for the normal development and function of muscle cells. Myotubular myopathy is X-linked, which means that it primarily affects males. Females can also be carriers of the condition, but they typically do not experience symptoms.

Symptoms:

The symptoms of myotubular myopathy can vary widely depending on the severity of the condition. Some infants with the disorder may have difficulty breathing and feeding, while others may have weak muscle tone and delayed motor development. Common symptoms of myotubular myopathy include:

• Weakness in the muscles of the face and throat, which can cause difficulty swallowing and breathing
• Difficulty moving the arms and legs
• Delayed motor development
• Abnormal curvature of the spine (scoliosis)
• Weakness in the muscles of the chest and diaphragm, which can cause respiratory failure

Diagnosis:

Myotubular myopathy is usually diagnosed through a combination of physical examination, medical history, and genetic testing. A muscle biopsy may also be performed to examine the structure of the muscle cells. Genetic testing is the most reliable way to diagnose myotubular myopathy. This involves testing a sample of DNA to look for mutations in the MTM1 gene. Next-generation sequencing (NGS) is a type of genetic testing that can quickly and accurately identify mutations in multiple genes at once.

MTM1 Gene Myotubular Myopathy X-linked NGS Genetic DNA Test:

The MTM1 gene myotubular myopathy X-linked NGS genetic DNA test is a diagnostic test that uses next-generation sequencing to identify mutations in the MTM1 gene. The test is performed on a blood or saliva sample, which is sent to a laboratory for analysis. The cost of the test is INR 20,000.

Conclusion:

Myotubular myopathy is a rare genetic disorder that primarily affects males. It is caused by mutations in the MTM1 gene, which provides instructions for making a protein that is essential for the normal development and function of muscle cells. Symptoms of myotubular myopathy can vary widely depending on the severity of the condition, but common symptoms include weak muscle tone, delayed motor development, and difficulty breathing and swallowing. Diagnosis is usually done through genetic testing, and the MTM1 gene myotubular myopathy X-linked NGS genetic DNA test is a reliable diagnostic tool. If you suspect that you or someone you know may have myotubular myopathy, it is important to speak with a healthcare professional for proper diagnosis and treatment.