COG7 Gene Glycosylation Disorder Type 2E Genetic Test
At DNA Labs UAE, we offer the COG7 Gene Glycosylation Disorder Type 2E Genetic Test, a comprehensive genetic test that helps identify mutations or variations in the COG7 gene. This test plays a crucial role in diagnosing individuals suspected of having a glycosylation disorder type 2E.
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: Metabolic Disorders
- Doctor: General Physician
- Test Department: Genetics
Symptoms and Diagnosis
Glycosylation disorder type 2E is characterized by a range of symptoms, including developmental delays, intellectual disability, seizures, and various physical abnormalities. To ensure accurate diagnosis, it is essential to have a clinical history of the patient who is undergoing the COG7 Gene Glycosylation Disorder Type 2E NGS Genetic DNA Test. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by the disorder.
About the Test
The COG7 gene is involved in glycosylation, a process crucial for the proper functioning of various proteins in the body. Mutations or variations in the COG7 gene can lead to glycosylation disorder type 2E. Our NGS technology allows for the simultaneous analysis of multiple genes, enabling efficient identification of potential genetic causes of the disorder.
Importance of the Test
By identifying mutations or variations in the COG7 gene, the COG7 Gene Glycosylation Disorder Type 2E Genetic Test provides a definitive diagnosis for individuals suspected of having the disorder. This diagnosis is vital for guiding medical management and treatment decisions. Furthermore, the test results offer valuable information for genetic counseling and family planning.
Test Name | COG7 Gene Glycosylation disorder type 2E 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 | Metabolic Disorders |
Doctor | General Physician |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for COG7 Gene Glycosylation disorder type 2E NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder type 2E |
Test Details |
The COG7 gene glycosylation disorder type 2E NGS genetic test is a genetic test that is used to identify mutations or variations in the COG7 gene. This gene is involved in a process called glycosylation, which is important for the proper functioning of various proteins in the body. Mutations in the COG7 gene can lead to a glycosylation disorder, specifically type 2E. This disorder is characterized by a range of symptoms, including developmental delays, intellectual disability, seizures, and various physical abnormalities. The NGS (next-generation sequencing) technology used in this genetic test allows for the analysis of multiple genes simultaneously, which can help to identify potential genetic causes of the disorder more efficiently. By identifying mutations or variations in the COG7 gene, this test can provide a definitive diagnosis for individuals suspected of having a glycosylation disorder type 2E. This can be important for guiding medical management and treatment decisions, as well as providing information for genetic counseling and family planning. |