STIM1 Gene Stormorken Syndrome Genetic Test
At DNA Labs UAE, we offer the STIM1 Gene Stormorken Syndrome Genetic Test to help diagnose individuals suspected of having Stormorken syndrome. This rare genetic disorder is caused by mutations in the STIM1 gene, which is responsible for producing the stromal interaction molecule 1 protein.
Test Components and Price
The STIM1 Gene Stormorken Syndrome Genetic Test is priced at 4400.0 AED. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Report Delivery
Once the sample is received, the report will be delivered within 3 to 4 weeks.
Method and Test Type
The STIM1 Gene Stormorken Syndrome Genetic Test utilizes NGS (Next-Generation Sequencing) technology. This high-throughput sequencing technique allows for the analysis of multiple genes simultaneously. The test falls under the category of hematology.
Doctor and Test Department
The STIM1 Gene Stormorken Syndrome Genetic Test is conducted by a hematologist and falls under the genetics department.
Pre-Test Information
Before undergoing the STIM1 Gene Stormorken Syndrome Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by the syndrome and the STIM1 gene.
Test Details
Stormorken syndrome is characterized by abnormal bleeding tendencies, muscle weakness, low platelet count (thrombocytopenia), abnormally small pupils (miosis), and dyslexia. The STIM1 gene mutations are responsible for these symptoms.
NGS genetic testing is highly effective in detecting mutations or variations in the STIM1 gene. This information is crucial for accurate diagnosis, genetic counseling, and potential treatment options for individuals suspected of having Stormorken syndrome.
By offering the STIM1 Gene Stormorken Syndrome Genetic Test, DNA Labs UAE aims to provide valuable insights into the condition and improve the quality of life for affected individuals.
| Test Name | STIM1 Gene Stormorken syndrome Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Hematology |
| Doctor | Hematologist |
| Test Department: | Genetics |
| Pre Test 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 |
| Test Details |
The STIM1 gene is responsible for providing instructions for the production of a protein called stromal interaction molecule 1. This protein plays a crucial role in regulating the flow of calcium ions in cells. Stormorken syndrome, also known as Stormorken’s syndrome or Stormorken’s disease, is a rare genetic disorder caused by mutations in the STIM1 gene. This condition is characterized by a combination of symptoms including abnormal bleeding tendencies, muscle weakness, thrombocytopenia (low platelet count), miosis (abnormally small pupils), and dyslexia. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. This technique allows for the detection of genetic mutations or variations in the STIM1 gene, which can help in the diagnosis of Stormorken syndrome. NGS genetic testing can be used to identify specific mutations in the STIM1 gene, providing valuable information for genetic counseling, accurate diagnosis, and potential treatment options for individuals suspected of having Stormorken syndrome. |
