CEP290 Gene Meckel Syndrome Type 4 Genetic Test
Test Name: CEP290 Gene Meckel Syndrome Type 4 Genetic Test
Components: NGS Technology
Price: 4400.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 3 to 4 Weeks
Test Type: Hepatology, Nephrology, Endocrinology Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for CEP290 Gene Meckel Syndrome Type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CEP290 Gene Meckel Syndrome Type 4 NGS Genetic DNA Test gene CEP290.
Test Details: The CEP290 gene is associated with Meckel Syndrome Type 4, which is a rare genetic disorder characterized by abnormalities in multiple organ systems, including the brain, kidneys, and liver. Meckel Syndrome Type 4 is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify genetic variations or mutations that may be associated with a particular condition. In the case of Meckel Syndrome Type 4, NGS genetic testing can be used to detect mutations in the CEP290 gene. This test can help confirm a diagnosis and provide information about the specific genetic mutation present, which can be useful for family planning and genetic counseling purposes.
It is important to consult with a healthcare professional or a genetic counselor to discuss the appropriateness and availability of NGS genetic testing for Meckel Syndrome Type 4, as well as to understand the potential risks, benefits, and limitations of the test.
Test Name | CEP290 Gene Meckel syndrome type 4 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 | Hepatology Nephrology Endocrinology Disorders |
Doctor | General Physician |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for CEP290 Gene Meckel syndrome type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CEP290 Gene Meckel syndrome type 4 NGS Genetic DNA Test gene CEP290 |
Test Details |
The CEP290 gene is associated with Meckel syndrome type 4, which is a rare genetic disorder characterized by abnormalities in multiple organ systems, including the brain, kidneys, and liver. Meckel syndrome type 4 is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify genetic variations or mutations that may be associated with a particular condition. In the case of Meckel syndrome type 4, NGS genetic testing can be used to detect mutations in the CEP290 gene. This test can help confirm a diagnosis and provide information about the specific genetic mutation present, which can be useful for family planning and genetic counseling purposes. It is important to consult with a healthcare professional or a genetic counselor to discuss the appropriateness and availability of NGS genetic testing for Meckel syndrome type 4, as well as to understand the potential risks, benefits, and limitations of the test. |