Short Description

NGS genetic DNA test detecets for variant and mutation detection in TTN gene for Myopathy, early-onset with fatal cardiomyopathy

PreTest Information

Clinical History of Patient who is going for TTN Gene Myopathy, early-onset with fatal cardiomyopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TTN Gene Myopathy, early-onset with fatal cardiomyopathy

Detail Description

TTN Gene Myopathy: Early-Onset with Fatal Cardiomyopathy NGS Genetic DNA Test Cost INR 20,000

TTN gene myopathy is a rare genetic disorder that affects the skeletal muscles and the heart. It is caused by mutations in the TTN gene, which provides instructions for making a protein called titin. Titin is the largest protein in the body and plays an important role in the structure and function of muscle cells. Mutations in the TTN gene can disrupt the normal structure and function of titin, leading to muscle weakness, early-onset heart failure, and other symptoms.

Symptoms of TTN Gene Myopathy

The symptoms of TTN gene myopathy can vary widely, even among family members with the same genetic mutation. Some common symptoms include:

• Muscle weakness, especially in the limbs
• Difficulty walking or running
• Delayed motor development
• Difficulty swallowing or breathing
• Early-onset heart failure
• Arrhythmias

TTN gene myopathy is a progressive disorder, meaning that symptoms tend to worsen over time. In some cases, the disease can be fatal.

Diagnosis of TTN Gene Myopathy

Diagnosing TTN gene myopathy can be challenging, as the symptoms can be similar to those of other muscle and heart disorders. A diagnosis is typically made through a combination of clinical evaluation, genetic testing, and imaging studies.

Genetic testing is the most reliable way to diagnose TTN gene myopathy. Next-generation sequencing (NGS) technology can analyze the entire TTN gene to identify mutations that may be causing the disease. NGS testing can also identify mutations in other genes that may be contributing to the patient's symptoms.

TTN Gene Myopathy NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for TTN gene myopathy in India is typically around INR 20,000. This cost may vary depending on the specific testing facility and any additional tests or consultations that may be required.

Conclusion

TTN gene myopathy is a rare genetic disorder that can cause muscle weakness and early-onset heart failure. Diagnosis can be challenging, but genetic testing using NGS technology can provide a reliable and accurate diagnosis. If you or a loved one is experiencing symptoms of TTN gene myopathy, talk to your doctor about genetic testing options and the cost of an NGS genetic DNA test.

For more information on genetic testing and other DNA-related services, contact DNA Labs India today.

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 TTN Gene Myopathy, early-onset with fatal cardiomyopathy NGS Genetic DNA Test