Short Description

NGS genetic DNA test detecets for variant and mutation detection in MTMR14 gene for Centronuclear myopathy type 1

PreTest Information

Clinical History of Patient who is going for MTMR14 Gene Centronuclear myopathy type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MTMR14 Gene Centronuclear myopathy type 1

Detail Description

MTMR14 Gene Centronuclear Myopathy Type 1 NGS Genetic DNA Test: Symptoms, Diagnosis and Cost in India

Centronuclear myopathy type 1 is a rare genetic disorder that affects the muscles. It is caused by mutations in the MTMR14 gene. This gene provides instructions for making a protein that is important for the normal development and function of muscle cells. When the MTMR14 gene is mutated, it can lead to muscle weakness and other symptoms.

Symptoms of Centronuclear Myopathy Type 1

The symptoms of centronuclear myopathy type 1 can vary widely from person to person, and may include:

• Muscle weakness
• Difficulty walking or running
• Trouble with fine motor skills, such as buttoning clothes or picking up small objects
• Delayed motor development
• Breathing difficulties
• Difficulty swallowing
• Abnormal curvature of the spine (scoliosis)

Diagnosis of Centronuclear Myopathy Type 1

Centronuclear myopathy type 1 is diagnosed through a combination of clinical evaluation, genetic testing, and muscle biopsy. During a clinical evaluation, a doctor will examine the patient's symptoms and medical history. Genetic testing can help confirm a diagnosis by identifying mutations in the MTMR14 gene. A muscle biopsy may also be performed to examine the muscle tissue under a microscope.

NGS Genetic DNA Test for Centronuclear Myopathy Type 1

NGS (next-generation sequencing) genetic DNA testing is a powerful tool for diagnosing centronuclear myopathy type 1. This type of testing can analyze multiple genes at once, making it more efficient and cost-effective than traditional genetic testing methods. The NGS genetic DNA test for centronuclear myopathy type 1 analyzes the MTMR14 gene, as well as other genes that may be associated with muscle weakness and related conditions.

Cost of MTMR14 Gene Centronuclear Myopathy Type 1 NGS Genetic DNA Test in India

The cost of the MTMR14 gene centronuclear myopathy type 1 NGS genetic DNA test in India can vary depending on the laboratory and testing facility. On average, the cost of this test is around INR 20,000. However, it is important to note that some insurance companies may cover the cost of genetic testing for certain medical conditions.

Conclusion

Centronuclear myopathy type 1 is a rare genetic disorder that can cause muscle weakness and other symptoms. Genetic testing, including the NGS genetic DNA test, can help diagnose this condition and inform treatment decisions. If you or someone you know is experiencing symptoms of centronuclear myopathy type 1, talk to a healthcare provider about genetic testing options.

At DNA Labs India, we provide comprehensive genetic testing services, including NGS genetic DNA testing for centronuclear myopathy type 1. Contact us today to learn more about our testing options and how we can help you get the answers you need.

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 MTMR14 Gene Centronuclear myopathy type 1 NGS Genetic DNA Test