SLC4A5 Gene Renal Tubular Acidosis Genetic Test
Test Name: SLC4A5 Gene Renal Tubular Acidosis SLC4A5 related 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 SLC4A5 Gene Renal tubular acidosis, SLC4A5 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC4A5 Gene Renal tubular acidosis, SLC4A5 related NGS Genetic DNA Test gene SLC4A5
Test Details
The SLC4A5 gene is responsible for encoding a protein called sodium bicarbonate cotransporter 1 (NBCe1), which plays a crucial role in maintaining the acid-base balance in the kidneys. Mutations in the SLC4A5 gene can lead to a condition called renal tubular acidosis (RTA).
Renal tubular acidosis is a disorder characterized by the inability of the kidneys to effectively remove acid from the body, resulting in an accumulation of acid in the blood. This can lead to a variety of symptoms, including excessive thirst, frequent urination, fatigue, muscle weakness, and growth retardation in children.
To diagnose SLC4A5-related renal tubular acidosis, a genetic test can be performed. Next-generation sequencing (NGS) is a type of genetic testing that allows for the analysis of multiple genes simultaneously. In the case of SLC4A5-related RTA, NGS can identify specific mutations or variations in the SLC4A5 gene that may be responsible for the condition.
NGS genetic testing for SLC4A5-related RTA can be helpful in confirming a diagnosis, especially in cases where the symptoms are not clearly indicative of the condition. It can also provide valuable information for genetic counseling and family planning.
It is important to note that genetic testing should always be performed and interpreted by qualified healthcare professionals who specialize in genetics. They can provide accurate diagnosis, interpretation of results, and appropriate management strategies based on the individual’s specific genetic profile.
Test Name | SLC4A5 Gene Renal tubular acidosis SLC4A5 related 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 SLC4A5 Gene Renal tubular acidosis, SLC4A5 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC4A5 Gene Renal tubular acidosis, SLC4A5 related NGS Genetic DNA Test gene SLC4A5 |
Test Details |
SLC4A5 gene is responsible for encoding a protein called sodium bicarbonate cotransporter 1 (NBCe1), which plays a crucial role in maintaining the acid-base balance in the kidneys. Mutations in the SLC4A5 gene can lead to a condition called renal tubular acidosis (RTA). Renal tubular acidosis is a disorder characterized by the inability of the kidneys to effectively remove acid from the body, resulting in an accumulation of acid in the blood. This can lead to a variety of symptoms, including excessive thirst, frequent urination, fatigue, muscle weakness, and growth retardation in children. To diagnose SLC4A5-related renal tubular acidosis, a genetic test can be performed. Next-generation sequencing (NGS) is a type of genetic testing that allows for the analysis of multiple genes simultaneously. In the case of SLC4A5-related RTA, NGS can identify specific mutations or variations in the SLC4A5 gene that may be responsible for the condition. NGS genetic testing for SLC4A5-related RTA can be helpful in confirming a diagnosis, especially in cases where the symptoms are not clearly indicative of the condition. It can also provide valuable information for genetic counseling and family planning. It is important to note that genetic testing should always be performed and interpreted by qualified healthcare professionals who specialize in genetics. They can provide accurate diagnosis, interpretation of results, and appropriate management strategies based on the individual’s specific genetic profile. |