DDB2 Gene Xeroderma pigmentosum group E DDB-negative subtype Genetic Test
At DNA Labs UAE, we offer the DDB2 Gene Xeroderma pigmentosum group E DDB-negative subtype Genetic Test at a cost of AED 4400.0. This test is essential for individuals with a clinical history of Xeroderma pigmentosum, group E, DDB-negative subtype, as it helps in accurate diagnosis and assessment of disease severity.
Test Details
The DDB2 gene is associated with a rare genetic disorder called xeroderma pigmentosum, group E (XP-E). Individuals with XP-E have extreme sensitivity to ultraviolet (UV) radiation from sunlight and are unable to repair DNA damage caused by UV radiation. This increases their risk of developing skin cancer and other skin abnormalities.
The DDB-negative subtype of XP-E refers to individuals who have mutations in the DDB2 gene, resulting in a complete absence or severe reduction of the DDB2 protein. The DDB2 protein plays a crucial role in recognizing and repairing UV-induced DNA damage. Without functional DDB2 protein, individuals with the DDB-negative subtype of XP-E cannot efficiently repair UV-induced DNA damage, leading to the characteristic symptoms of the disorder.
To confirm a diagnosis of XP-E and determine the specific subtype, such as the DDB-negative subtype, we use NGS (Next-Generation Sequencing) technology. NGS genetic testing allows us to analyze and sequence multiple genes simultaneously, including the DDB2 gene. By identifying the specific genetic mutation causing XP-E, NGS genetic testing provides accurate diagnosis, assesses disease severity, and guides treatment options.
Test Components and Price
The DDB2 Gene Xeroderma pigmentosum group E DDB-negative subtype Genetic Test is priced at AED 4400.0. The test requires a blood sample or extracted DNA, or one drop of blood on an FTA card.
Report Delivery and Method
After the sample is collected, the report will be delivered within 3 to 4 weeks. The test is conducted using NGS technology.
Test Type and Doctor
The DDB2 Gene Xeroderma pigmentosum group E DDB-negative subtype Genetic Test falls under the category of Osteology Dermatology Immunology Disorders. It is recommended to consult with a dermatologist for this test.
Test Department and Pre Test Information
The test is conducted in the Genetics department. Before undergoing the DDB2 Gene Xeroderma pigmentosum group E DDB-negative subtype Genetic Test, it is important 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 DDB2 Gene Xeroderma pigmentosum, group E, DDB-negative subtype NGS Genetic DNA Test gene DDB2.
Conclusion
The DDB2 Gene Xeroderma pigmentosum group E DDB-negative subtype Genetic Test is a valuable tool for accurate diagnosis, assessment of disease severity, and treatment guidance for individuals with XP-E. NGS genetic testing helps identify the specific genetic mutation causing XP-E, providing crucial information for genetic counseling and family planning purposes.
| Test Name | DDB2 Gene Xeroderma pigmentosum group E DDB-negative subtype 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 DDB2 Gene Xeroderma pigmentosum, group E, DDB-negative subtype NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DDB2 Gene Xeroderma pigmentosum, group E, DDB-negative subtype NGS Genetic DNA Test gene DDB2 |
| Test Details | The DDB2 gene is associated with a condition called xeroderma pigmentosum, group E (XP-E). XP-E is a rare genetic disorder characterized by extreme sensitivity to ultraviolet (UV) radiation from sunlight. Individuals with this condition are unable to repair DNA damage caused by UV radiation, leading to a high risk of developing skin cancer and other skin abnormalities. The DDB-negative subtype of XP-E refers to individuals who have mutations in the DDB2 gene, resulting in a complete absence or severe reduction of the DDB2 protein. The DDB2 protein is involved in the recognition and repair of UV-induced DNA damage. Without functional DDB2 protein, individuals with the DDB-negative subtype of XP-E are unable to repair UV-induced DNA damage efficiently, leading to the characteristic symptoms of the disorder. NGS (Next-Generation Sequencing) genetic testing is a powerful tool used to analyze and sequence multiple genes simultaneously. In the context of XP-E, NGS genetic testing can be used to identify mutations in the DDB2 gene, confirming a diagnosis of XP-E and determining the specific subtype, such as the DDB-negative subtype. By identifying the specific genetic mutation causing XP-E, NGS genetic testing can help in providing accurate diagnosis, assessing disease severity, and guiding treatment options for affected individuals. It can also be used for genetic counseling and family planning purposes. |
