Short Description

NGS genetic DNA test detecets for variant and mutation detection in TNNT1 gene for Nemaline myopathy type 5

PreTest Information

Clinical History of Patient who is going for TNNT1 Gene Nemaline myopathy type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TNNT1 Gene Nemaline myopathy type 5

Detail Description

Understanding the TNNT1 Gene and Nemaline Myopathy Type 5

Nemaline myopathy type 5 (NEM5) is a rare genetic disorder that affects muscle function. It is caused by mutations in the TNNT1 gene, which provides instructions for making a protein called troponin T. Troponin T is a crucial component of the muscle contractile apparatus and is responsible for regulating muscle contraction. Mutations in the TNNT1 gene disrupt the normal function of troponin T, leading to muscle weakness and other symptoms associated with NEM5.

Symptoms of Nemaline Myopathy Type 5

People with NEM5 typically present with muscle weakness that affects the limbs, trunk, and neck. The severity of symptoms can vary widely, ranging from mild weakness to severe disability. Other symptoms associated with NEM5 include:

• Difficulty breathing
• Swallowing difficulties
• Scoliosis
• Delayed motor development
• Joint contractures
• Abnormal gait
• Facial weakness

Diagnosis of Nemaline Myopathy Type 5

NEM5 can be diagnosed through a combination of clinical evaluation, genetic testing, and muscle biopsy. During a clinical evaluation, a healthcare provider will assess the patient's symptoms and medical history. Genetic testing can confirm the presence of mutations in the TNNT1 gene. Muscle biopsy can also be used to confirm the diagnosis by examining muscle tissue under a microscope.

NGS Genetic DNA Test for Nemaline Myopathy Type 5

Next-generation sequencing (NGS) technology has revolutionized genetic testing by allowing for the simultaneous analysis of multiple genes. NGS-based testing for NEM5 involves sequencing the TNNT1 gene to identify mutations that may be causing the disorder. This type of testing can provide a faster and more comprehensive diagnosis compared to traditional genetic testing methods. The cost of NGS-based testing for NEM5 in India is approximately INR 20,000.

Conclusion

Nemaline myopathy type 5 is a rare genetic disorder caused by mutations in the TNNT1 gene. Symptoms include muscle weakness, difficulty breathing, and scoliosis. Diagnosis involves clinical evaluation, genetic testing, and muscle biopsy. NGS-based testing is a faster and more comprehensive method of genetic testing that can be used to diagnose NEM5. The cost of NGS-based testing for NEM5 in India is approximately INR 20,000.

If you suspect that you or a loved one may have NEM5, it is important to speak with a healthcare provider to receive a proper diagnosis and treatment plan.

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 TNNT1 Gene Nemaline myopathy type 5 NGS Genetic DNA Test