Short Description

NGS genetic DNA test detecets for variant and mutation detection in STIM1 gene for Stormorken syndrome

PreTest Information

Clinical History of Patient who is going for STIM1 Gene Stormorken syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with STIM1 Gene Stormorken syndrome NGS Genetic DNA Test gene STIM1

Detail Description

STIM1 Gene and Stormorken Syndrome: Understanding Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Stormorken syndrome is a rare genetic disorder that affects multiple systems in the body, including the nervous, muscular, and immune systems. It is caused by mutations in the STIM1 gene, which provides instructions for making a protein that plays a crucial role in regulating calcium levels inside cells.

In this blog post, we will discuss the symptoms and diagnosis of Stormorken syndrome, and the role of NGS genetic DNA testing in identifying the condition. We will also provide information on the cost of such tests in India.

Symptoms of Stormorken Syndrome

The symptoms of Stormorken syndrome can vary widely from person to person, but may include:

• Abnormal bleeding and bruising
• Short stature
• Muscle weakness and fatigue
• Recurrent infections
• Developmental delays
• Abnormal heart rhythms
• Abnormal sweating
• Abnormal blood calcium levels

These symptoms can appear in childhood or adulthood and can be mild or severe. Some people with Stormorken syndrome may also develop other conditions, such as epilepsy or intellectual disability.

Diagnosis of Stormorken Syndrome

Diagnosing Stormorken syndrome can be challenging because it is a rare condition and the symptoms can be similar to those of other disorders. However, genetic testing can help confirm a diagnosis.

NGS genetic DNA testing is a powerful tool for identifying genetic mutations that cause Stormorken syndrome. This type of test involves sequencing the entire genome or specific genes, such as the STIM1 gene, to identify any changes that may be causing the condition.

If a genetic mutation is found, other family members may also be tested to determine if they are carriers of the mutation.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing in India can vary depending on the provider and the specific test being performed. However, on average, the cost of such tests can range from INR 20,000 to INR 50,000.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for Stormorken syndrome. Our tests are performed using state-of-the-art technology and are conducted by highly qualified and experienced professionals.

We understand that genetic testing can be a significant investment, which is why we strive to provide affordable and accurate testing services to our clients. We also offer counseling services to help individuals and families understand their test results and make informed decisions about their health.

Conclusion

Stormorken syndrome is a rare genetic disorder that can cause a range of symptoms affecting multiple systems in the body. Genetic testing, such as NGS genetic DNA testing, can help diagnose the condition and identify carriers of the mutation.

If you or a loved one is experiencing symptoms of Stormorken syndrome, or if you are concerned about your risk of carrying the mutation, contact DNA Labs India today to learn more about our genetic testing services.

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 Stormorken syndrome NGS Genetic DNA Test