PKHD1 Gene Polycystic kidney and hepatic disease 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 PKHD1 Gene Polycystic kidney and hepatic disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PKHD1 Gene Polycystic kidney and hepatic disease NGS Genetic DNA Test gene PKHD1.
Test Details
The PKHD1 gene is responsible for the production of a protein called fibrocystin, which is involved in the development and function of the kidneys and liver. Mutations in the PKHD1 gene can lead to a condition called polycystic kidney and hepatic disease (PKHD), which is characterized by the formation of fluid-filled cysts in the kidneys and liver.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify mutations or variations that may be associated with a particular condition. In the case of PKHD, NGS genetic testing can be used to identify mutations in the PKHD1 gene that are responsible for the development of the disease.
By identifying specific mutations in the PKHD1 gene, NGS genetic testing can help diagnose PKHD and determine the likelihood of developing the disease in individuals with a family history of PKHD. It can also be used for carrier testing in individuals planning to have children, as PKHD is an autosomal recessive condition, meaning that both parents must carry a mutation in the PKHD1 gene for their child to be affected.
NGS genetic testing for PKHD can provide valuable information for individuals and families affected by the condition, allowing for early detection, monitoring, and management of the disease. It can also help in genetic counseling and family planning decisions.
Test Name | PKHD1 Gene Polycystic kidney and hepatic disease 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 PKHD1 Gene Polycystic kidney and hepatic disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PKHD1 Gene Polycystic kidney and hepatic disease NGS Genetic DNA Test gene PKHD1 |
Test Details |
The PKHD1 gene is responsible for the production of a protein called fibrocystin, which is involved in the development and function of the kidneys and liver. Mutations in the PKHD1 gene can lead to a condition called polycystic kidney and hepatic disease (PKHD), which is characterized by the formation of fluid-filled cysts in the kidneys and liver. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify mutations or variations that may be associated with a particular condition. In the case of PKHD, NGS genetic testing can be used to identify mutations in the PKHD1 gene that are responsible for the development of the disease. By identifying specific mutations in the PKHD1 gene, NGS genetic testing can help diagnose PKHD and determine the likelihood of developing the disease in individuals with a family history of PKHD. It can also be used for carrier testing in individuals planning to have children, as PKHD is an autosomal recessive condition, meaning that both parents must carry a mutation in the PKHD1 gene for their child to be affected. NGS genetic testing for PKHD can provide valuable information for individuals and families affected by the condition, allowing for early detection, monitoring, and management of the disease. It can also help in genetic counseling and family planning decisions. |