Short Description

NGS genetic DNA test detecets for variant and mutation detection in STIM1 gene for Myopathy, tubular aggregate, type 1

PreTest Information

Clinical History of Patient who is going for STIM1 Gene Myopathy, tubular aggregate, type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with STIM1 Gene Myopathy, tubular aggregate, type 1

Detail Description

STIM1 Gene Myopathy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

STIM1 gene myopathy is a rare genetic disorder that affects the muscles and causes weakness and fatigue. It is caused by a mutation in the STIM1 gene, which is responsible for regulating calcium levels in muscle cells. This disorder is characterized by the presence of tubular aggregates in muscle tissue, which can be seen under a microscope.

Symptoms of STIM1 Gene Myopathy

The symptoms of STIM1 gene myopathy can vary from person to person, but some common symptoms include:

• Muscle weakness and fatigue
• Difficulty walking or standing up from a sitting position
• Difficulty lifting objects or raising arms above the head
• Breathing difficulties
• Swallowing difficulties
• Scoliosis

These symptoms usually appear in childhood or early adulthood, but they can also appear later in life. The severity of symptoms can also vary, with some people experiencing mild symptoms and others experiencing more severe symptoms.

Diagnosis of STIM1 Gene Myopathy

STIM1 gene myopathy is diagnosed through a combination of clinical evaluation, genetic testing, and muscle biopsy. During a clinical evaluation, a doctor will assess a person's symptoms, medical history, and family history to determine if they may have this disorder.

Genetic testing involves analyzing a person's DNA to look for mutations in the STIM1 gene. This can be done through a variety of methods, including next-generation sequencing (NGS) genetic testing.

A muscle biopsy may also be performed to look for the presence of tubular aggregates in muscle tissue. This involves removing a small sample of muscle tissue and examining it under a microscope.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic testing for STIM1 gene myopathy in India can vary depending on the provider and the specific test being performed. On average, the cost of NGS genetic testing in India is around INR 20,000.

It is important to note that while genetic testing can be helpful in diagnosing STIM1 gene myopathy, it is not always necessary. A diagnosis can also be made through clinical evaluation and muscle biopsy.

Conclusion

STIM1 gene myopathy is a rare genetic disorder that can cause muscle weakness and fatigue. Diagnosis typically involves a combination of clinical evaluation, genetic testing, and muscle biopsy. NGS genetic testing is one option for diagnosing this disorder, with a cost of around INR 20,000 in India.

If you or a loved one is experiencing symptoms of STIM1 gene myopathy, it is important to speak with a healthcare provider for proper diagnosis and treatment.

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 STIM1 Gene Myopathy, tubular aggregate, type 1 NGS Genetic DNA Test