SLC4A1 Gene Ovalocytosis Genetic Test
Test Name: SLC4A1 Gene Ovalocytosis Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
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 SLC4A1 Gene Ovalocytosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC4A1 Gene Ovalocytosis NGS Genetic DNA Test gene SLC4A1
Test Details
SLC4A1 gene ovalocytosis NGS genetic test is a genetic test that analyzes the SLC4A1 gene for mutations associated with ovalocytosis. Ovalocytosis is a condition characterized by the presence of oval-shaped red blood cells instead of the normal disc-shaped cells.
This genetic test uses Next-Generation Sequencing (NGS) technology to sequence the SLC4A1 gene and identify any variations or mutations that may be present. The SLC4A1 gene provides instructions for producing a protein called anion exchanger 1 (AE1), which is responsible for maintaining the proper balance of ions and pH in red blood cells. Mutations in the SLC4A1 gene can disrupt the normal function of AE1 and lead to the formation of oval-shaped red blood cells.
The SLC4A1 gene ovalocytosis NGS genetic test can be used to diagnose ovalocytosis and determine the specific genetic mutation causing the condition. It can also be used for carrier testing in individuals with a family history of ovalocytosis or for prenatal testing in couples at risk of having a child with the condition.
The test typically involves collecting a blood or saliva sample from the individual undergoing testing. The sample is then sent to a laboratory where the NGS technology is used to sequence the SLC4A1 gene and identify any mutations.
The results of the SLC4A1 gene ovalocytosis NGS genetic test can help guide medical management and treatment options for individuals with ovalocytosis. It can also provide information about the risk of passing on the condition to future generations.
It is important to note that this genetic test should be ordered and interpreted by a qualified healthcare professional, such as a genetic counselor or medical geneticist, who can provide appropriate counseling and guidance based on the test results.
Test Name | SLC4A1 Gene Ovalocytosis 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 SLC4A1 Gene Ovalocytosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC4A1 Gene Ovalocytosis NGS Genetic DNA Test gene SLC4A1 |
Test Details |
SLC4A1 gene ovalocytosis NGS genetic test is a genetic test that analyzes the SLC4A1 gene for mutations associated with ovalocytosis. Ovalocytosis is a condition characterized by the presence of oval-shaped red blood cells instead of the normal disc-shaped cells. This genetic test uses Next-Generation Sequencing (NGS) technology to sequence the SLC4A1 gene and identify any variations or mutations that may be present. The SLC4A1 gene provides instructions for producing a protein called anion exchanger 1 (AE1), which is responsible for maintaining the proper balance of ions and pH in red blood cells. Mutations in the SLC4A1 gene can disrupt the normal function of AE1 and lead to the formation of oval-shaped red blood cells. The SLC4A1 gene ovalocytosis NGS genetic test can be used to diagnose ovalocytosis and determine the specific genetic mutation causing the condition. It can also be used for carrier testing in individuals with a family history of ovalocytosis or for prenatal testing in couples at risk of having a child with the condition. The test typically involves collecting a blood or saliva sample from the individual undergoing testing. The sample is then sent to a laboratory where the NGS technology is used to sequence the SLC4A1 gene and identify any mutations. The results of the SLC4A1 gene ovalocytosis NGS genetic test can help guide medical management and treatment options for individuals with ovalocytosis. It can also provide information about the risk of passing on the condition to future generations. It is important to note that this genetic test should be ordered and interpreted by a qualified healthcare professional, such as a genetic counselor or medical geneticist, who can provide appropriate counseling and guidance based on the test results. |