SLC22A12 Gene Hypouricemia renal type 1 Genetic Test
Components
- Test Name: SLC22A12 Gene Hypouricemia renal type 1 Genetic Test
- 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 SLC22A12 Gene Hypouricemia, renal type 1 NGS Genetic DNA Test
A Genetic Counselling session to draw a pedigree chart of family members affected with Hypouricemia, renal type 1
Test Details
The SLC22A12 gene is responsible for encoding a protein called urate transporter 1 (URAT1), which plays a crucial role in the reabsorption of uric acid in the kidneys. Mutations in this gene can lead to a condition known as hypouricemia, renal type 1. Hypouricemia refers to abnormally low levels of uric acid in the blood. In renal type 1 hypouricemia, there is impaired reabsorption of uric acid in the kidneys, leading to increased excretion of uric acid in the urine. This condition is typically asymptomatic and is often discovered incidentally during routine blood tests.
A NGS (next-generation sequencing) genetic test for SLC22A12 gene mutations can be performed to identify any genetic variants that may be contributing to hypouricemia. This test involves sequencing the entire coding region of the gene to detect any genetic changes or mutations. Identifying the specific genetic mutation causing hypouricemia can be useful for confirming the diagnosis, predicting disease progression, and guiding treatment decisions.
In some cases, genetic counseling may also be recommended for individuals with hypouricemia to discuss the inheritance pattern and potential implications for family members. It is important to note that genetic testing for SLC22A12 gene mutations is typically not the first step in the diagnostic process for hypouricemia. Initial evaluation usually involves a comprehensive clinical assessment, including medical history, physical examination, and laboratory tests to measure uric acid levels. Genetic testing is usually reserved for cases where the diagnosis is unclear or when there is a strong suspicion of an underlying genetic cause.
| Test Name | SLC22A12 Gene Hypouricemia renal type 1 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 SLC22A12 Gene Hypouricemia, renal type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hypouricemia, renal type 1 |
| Test Details |
The SLC22A12 gene is responsible for encoding a protein called urate transporter 1 (URAT1), which plays a crucial role in the reabsorption of uric acid in the kidneys. Mutations in this gene can lead to a condition known as hypouricemia, renal type 1. Hypouricemia refers to abnormally low levels of uric acid in the blood. In renal type 1 hypouricemia, there is impaired reabsorption of uric acid in the kidneys, leading to increased excretion of uric acid in the urine. This condition is typically asymptomatic and is often discovered incidentally during routine blood tests. A NGS (next-generation sequencing) genetic test for SLC22A12 gene mutations can be performed to identify any genetic variants that may be contributing to hypouricemia. This test involves sequencing the entire coding region of the gene to detect any genetic changes or mutations. Identifying the specific genetic mutation causing hypouricemia can be useful for confirming the diagnosis, predicting disease progression, and guiding treatment decisions. In some cases, genetic counseling may also be recommended for individuals with hypouricemia to discuss the inheritance pattern and potential implications for family members. It is important to note that genetic testing for SLC22A12 gene mutations is typically not the first step in the diagnostic process for hypouricemia. Initial evaluation usually involves a comprehensive clinical assessment, including medical history, physical examination, and laboratory tests to measure uric acid levels. Genetic testing is usually reserved for cases where the diagnosis is unclear or when there is a strong suspicion of an underlying genetic cause. |
