Short Description

NGS genetic DNA test detecets for variant and mutation detection in TPM3 gene for Nemaline myopathy type 1

PreTest Information

Clinical History of Patient who is going for TPM3 Gene Nemaline myopathy type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TPM3 Gene Nemaline myopathy type 1

Detail Description

TPM3 Gene Nemaline Myopathy Type 1 NGS Genetic DNA Test: Symptoms, Diagnosis and Cost

Nemaline myopathy is a rare genetic disorder that affects muscle function. There are several types of nemaline myopathy, one of which is Nemaline myopathy type 1, caused by mutations in the TPM3 gene. The TPM3 gene provides instructions for making a protein that is essential for muscle contraction. Mutations in this gene can lead to weak muscles and other symptoms.

Symptoms of Nemaline Myopathy Type 1

The symptoms of Nemaline myopathy type 1 can vary widely, but typically include:

• Muscle weakness, particularly in the face, neck, and limbs
• Poor muscle tone
• Difficulty swallowing
• Breathing problems
• Scoliosis
• Delayed motor development

Symptoms can vary in severity and may appear at any age, from infancy to adulthood.

Diagnosing Nemaline Myopathy Type 1

Nemaline myopathy type 1 is diagnosed through a genetic test, which looks for mutations in the TPM3 gene. The test is typically performed using next-generation sequencing (NGS) technology, which is a high-throughput method of DNA sequencing that allows for the simultaneous analysis of multiple genes.

In addition to genetic testing, a muscle biopsy may be performed to look for characteristic changes in muscle tissue that are associated with nemaline myopathy.

Cost of NGS Genetic DNA Test for Nemaline Myopathy Type 1

The cost of the NGS genetic DNA test for Nemaline myopathy type 1 in India typically ranges from INR 20,000 to INR 30,000, depending on the laboratory and the specific test ordered. It is important to note that health insurance may cover some or all of the cost of genetic testing, depending on the policy.

Conclusion

Nemaline myopathy type 1 is a rare genetic disorder that can cause a range of symptoms, including muscle weakness, poor muscle tone, and breathing problems. The disorder is caused by mutations in the TPM3 gene, which can be identified through genetic testing using next-generation sequencing technology. The cost of the test in India typically ranges from INR 20,000 to INR 30,000, and may be covered by health insurance. Early diagnosis and treatment can help manage symptoms and improve quality of life for individuals with Nemaline myopathy type 1.

For more information on genetic testing for Nemaline myopathy type 1 and other rare genetic disorders, contact DNA Labs India.

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 TPM3 Gene Nemaline myopathy type 1 NGS Genetic DNA Test