TGFBR2 Gene Loeys-Dietz syndrome type 2B Genetic Test
At DNA Labs UAE, we offer the TGFBR2 Gene Loeys-Dietz syndrome type 2B Genetic Test at a cost of 4400.0 AED. This test is used to diagnose Loeys-Dietz syndrome type 2B, a genetic disorder characterized by abnormalities in the connective tissues of the body.
Test Details
The TGFBR2 gene provides instructions for making a protein called transforming growth factor beta receptor 2. This protein is involved in transmitting signals from the transforming growth factor beta (TGF-) family of proteins, which play a role in regulating cell growth, division, movement, and the formation of blood vessels.
Loeys-Dietz syndrome type 2B is caused by mutations in the TGFBR2 gene, which leads to a dysfunction in the TGF- signaling pathway. This can result in various symptoms, including aortic aneurysms and dissections, craniofacial abnormalities, skeletal features, and other connective tissue abnormalities.
Method
The TGFBR2 Gene Loeys-Dietz syndrome type 2B Genetic Test utilizes NGS (Next-Generation Sequencing) technology. NGS Genetic Test is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of Loeys-Dietz syndrome type 2B, this test involves sequencing the TGFBR2 gene to identify any mutations or variations associated with the condition.
Sample Condition
The sample required for this test can be either blood, extracted DNA, or one drop of blood on an FTA Card.
Report Delivery
The report for the TGFBR2 Gene Loeys-Dietz syndrome type 2B Genetic Test will be delivered within 3 to 4 weeks.
Doctor and Test Department
This test is performed by a dermatologist and falls under the Genetics department.
Pre Test Information
Prior to undergoing the TGFBR2 Gene Loeys-Dietz syndrome type 2B NGS Genetic DNA Test, it is recommended to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by the TGFBR2 Gene Loeys-Dietz syndrome type 2B NGS Genetic DNA Test gene TGFBR2.
Conclusion
The TGFBR2 Gene Loeys-Dietz syndrome type 2B Genetic Test offered by DNA Labs UAE is a valuable tool in diagnosing and managing Loeys-Dietz syndrome type 2B. By analyzing the TGFBR2 gene using NGS technology, this test can provide crucial information for confirming a diagnosis, assessing the risk of complications, and guiding treatment options.
Test Name | TGFBR2 Gene Loeys-Dietz syndrome type 2B 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 | Osteology Dermatology Immunology Disorders |
Doctor | Dermatologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for TGFBR2 Gene Loeys-Dietz syndrome type 2B NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TGFBR2 Gene Loeys-Dietz syndrome type 2B NGS Genetic DNA Test gene TGFBR2 |
Test Details |
The TGFBR2 gene is a gene that provides instructions for making a protein called transforming growth factor beta receptor 2. This protein is involved in transmitting signals from the transforming growth factor beta (TGF-) family of proteins, which play a role in regulating cell growth and division, cell movement, and the formation of blood vessels. Loeys-Dietz syndrome type 2B is a genetic disorder characterized by abnormalities in the connective tissues of the body. It is caused by mutations in the TGFBR2 gene, leading to a dysfunction in the TGF- signaling pathway. This can result in various symptoms, including aortic aneurysms and dissections, craniofacial abnormalities, skeletal features, and other connective tissue abnormalities. NGS (Next-Generation Sequencing) Genetic Test is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of Loeys-Dietz syndrome type 2B, an NGS Genetic Test would involve sequencing the TGFBR2 gene to identify any mutations or variations that may be associated with the condition. This test can help in confirming a diagnosis, assessing the risk of developing complications, and guiding treatment and management options for individuals with Loeys-Dietz syndrome type 2B. |