AQP2 Gene Diabetes insipidus nephrogenic autosomal Genetic Test
Test Name: AQP2 Gene Diabetes insipidus nephrogenic autosomal Genetic Test
Components: AQP2 gene sequencing
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 AQP2 Gene Diabetes insipidus, nephrogenic, autosomal NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AQP2 Gene Diabetes insipidus, nephrogenic, autosomal NGS Genetic DNA Test gene AQP2
Test Details:
The AQP2 gene is responsible for encoding a protein called aquaporin-2, which is involved in the regulation of water balance in the body. Mutations in the AQP2 gene can lead to a condition called nephrogenic diabetes insipidus (NDI). NDI is a rare genetic disorder characterized by the inability of the kidneys to concentrate urine properly, resulting in excessive thirst and production of large amounts of diluted urine. It is called “nephrogenic” because the problem lies in the kidneys’ response to the hormone vasopressin, which normally helps regulate water balance. Autosomal means that the gene mutation is located on one of the autosomes, non-sex chromosomes, and can affect both males and females equally. NDI can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific genetic mutation involved.
NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that can be used for genetic testing. In the context of NDI, NGS genetic testing involves sequencing the AQP2 gene to identify any mutations or variants that may be causing the condition. NGS genetic testing for AQP2 gene mutations can be useful in diagnosing NDI and determining the specific genetic cause of the condition. It can also be used for carrier testing in families with a history of NDI, as well as for prenatal testing in at-risk pregnancies. Overall, NGS genetic testing for AQP2 gene mutations is a valuable tool in the diagnosis and management of nephrogenic diabetes insipidus.
| Test Name | AQP2 Gene Diabetes insipidus nephrogenic autosomal 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 AQP2 Gene Diabetes insipidus, nephrogenic, autosomal NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AQP2 Gene Diabetes insipidus, nephrogenic, autosomal NGS Genetic DNA Test gene AQP2 |
| Test Details | The AQP2 gene is responsible for encoding a protein called aquaporin-2, which is involved in the regulation of water balance in the body. Mutations in the AQP2 gene can lead to a condition called nephrogenic diabetes insipidus (NDI). NDI is a rare genetic disorder characterized by the inability of the kidneys to concentrate urine properly, resulting in excessive thirst and production of large amounts of diluted urine. It is called “nephrogenic” because the problem lies in the kidneys’ response to the hormone vasopressin, which normally helps regulate water balance. Autosomal means that the gene mutation is located on one of the autosomes, non-sex chromosomes, and can affect both males and females equally. NDI can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific genetic mutation involved. NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that can be used for genetic testing. In the context of NDI, NGS genetic testing involves sequencing the AQP2 gene to identify any mutations or variants that may be causing the condition. NGS genetic testing for AQP2 gene mutations can be useful in diagnosing NDI and determining the specific genetic cause of the condition. It can also be used for carrier testing in families with a history of NDI, as well as for prenatal testing in at-risk pregnancies. Overall, NGS genetic testing for AQP2 gene mutations is a valuable tool in the diagnosis and management of nephrogenic diabetes insipidus. |
