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 Stormorken Syndrome NGS Genetic DNA Test

Stormorken syndrome is a rare genetic disorder caused by a mutation in the STIM1 gene. This gene is responsible for encoding a protein that plays a crucial role in the regulation of calcium levels in cells. Stormorken syndrome is characterized by a range of symptoms including bleeding disorders, muscle weakness, and vision problems.

Symptoms of Stormorken Syndrome

Stormorken syndrome is a multi-system disorder, which means it can affect various parts of the body. Some common symptoms of Stormorken syndrome include:

• Bleeding disorders: This can include easy bruising, excessive bleeding after injury, and nosebleeds.
• Muscle weakness: People with Stormorken syndrome may experience muscle weakness and fatigue.
• Vision problems: Stormorken syndrome can cause vision problems such as cataracts and night blindness.
• Enlarged spleen: The spleen may become enlarged in people with Stormorken syndrome.
• Short stature: Some people with Stormorken syndrome may have a short stature.

Diagnosis of Stormorken Syndrome

The diagnosis of Stormorken syndrome involves a combination of clinical evaluation and genetic testing. A doctor may perform a physical exam and review the patient's medical history to look for signs of the disorder. Genetic testing can confirm the presence of a mutation in the STIM1 gene.

NGS Genetic DNA Test for Stormorken Syndrome

The NGS Genetic DNA test is a highly accurate and reliable test that can detect mutations in the STIM1 gene. This test involves sequencing the DNA of the patient to identify any changes or mutations in the gene. The NGS Genetic DNA test is a non-invasive test that requires a small blood sample from the patient.

Cost of NGS Genetic DNA Test for Stormorken Syndrome

The cost of the NGS Genetic DNA test for Stormorken syndrome in India is approximately INR 20,000. The cost may vary depending on the testing facility and location.

Conclusion

Stormorken syndrome is a rare genetic disorder that can cause a range of symptoms. The NGS Genetic DNA test is an accurate and reliable test that can detect mutations in the STIM1 gene. The cost of the test may vary depending on the testing facility and location.

If you suspect that you or a family member may have Stormorken syndrome, it is important to speak with a doctor or genetic counselor to discuss testing options and treatment options.

Contact DNA Labs India for more information on the NGS Genetic DNA test for Stormorken syndrome and other genetic testing services.