SLC34A3 Gene Hypophosphatemic rickets with hypercalciuria Genetic Test
Cost: AED 4400.0
Test Components
The SLC34A3 Gene Hypophosphatemic rickets with hypercalciuria Genetic Test includes the following components:
- 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
Prior to the test, it is important to provide the clinical history of the patient who is going for the SLC34A3 Gene Hypophosphatemic rickets with hypercalciuria Genetic Test. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected with Hypophosphatemic rickets with hypercalciuria.
Test Details
The SLC34A3 gene is associated with a genetic condition called hypophosphatemic rickets with hypercalciuria (HRH). HRH is a rare disorder characterized by low levels of phosphate in the blood (hypophosphatemia), which leads to impaired bone mineralization and rickets. Individuals with HRH also have high levels of calcium in their urine (hypercalciuria), which can lead to the formation of kidney stones.
NGS (Next-Generation Sequencing) genetic testing refers to a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of HRH, NGS genetic testing can be used to identify mutations or variations in the SLC34A3 gene that may be responsible for the condition.
By performing NGS genetic testing for HRH, healthcare professionals can accurately diagnose individuals with the condition, provide appropriate medical management, and offer genetic counseling to affected individuals and their families. This can help in understanding the underlying genetic cause of the disease and potentially guide future treatment options or interventions.
Test Name | SLC34A3 Gene Hypophosphatemic rickets with hypercalciuria 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 SLC34A3 Gene Hypophosphatemic rickets with hypercalciuria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hypophosphatemic rickets with hypercalciuria |
Test Details |
The SLC34A3 gene is associated with a genetic condition called hypophosphatemic rickets with hypercalciuria (HRH). HRH is a rare disorder characterized by low levels of phosphate in the blood (hypophosphatemia), which leads to impaired bone mineralization and rickets. Additionally, individuals with HRH also have high levels of calcium in their urine (hypercalciuria), which can lead to the formation of kidney stones. NGS (Next-Generation Sequencing) genetic testing refers to a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of HRH, NGS genetic testing can be used to identify mutations or variations in the SLC34A3 gene that may be responsible for the condition. By performing NGS genetic testing for HRH, healthcare professionals can accurately diagnose individuals with the condition, provide appropriate medical management, and offer genetic counseling to affected individuals and their families. This can help in understanding the underlying genetic cause of the disease and potentially guide future treatment options or interventions. |