SLC25A38 Gene Anemia sideroblastic pyridoxine-refractory autosomal recessive Genetic Test
Genetic testing plays a crucial role in diagnosing and understanding various genetic conditions. One such test is the SLC25A38 Gene Anemia sideroblastic pyridoxine-refractory autosomal recessive Genetic Test offered by DNA Labs UAE.
Test Details
The SLC25A38 gene is associated with an autosomal recessive form of anemia called sideroblastic anemia. This condition is characterized by abnormal iron metabolism in the body, leading to impaired production of healthy red blood cells.
The SLC25A38 gene provides instructions for making a protein called mitochondrial deoxynucleotide carrier (DNC). This protein is involved in the transport of deoxynucleotides, essential building blocks for DNA synthesis, into the mitochondria, which are the energy-producing structures within cells.
Mutations in the SLC25A38 gene can disrupt the function of the DNC protein, leading to impaired mitochondrial function and the development of sideroblastic anemia. Specifically, pyridoxine-refractory sideroblastic anemia is a form of sideroblastic anemia that does not respond to treatment with pyridoxine (vitamin B6). This type of anemia is often caused by mutations in the SLC25A38 gene.
Test Components and Price
The SLC25A38 Gene Anemia sideroblastic pyridoxine-refractory autosomal recessive Genetic Test is priced at 4400.0 AED. The sample required for this test can be either blood, extracted DNA, or one drop of blood on an FTA card. The report delivery time is estimated to be 3 to 4 weeks.
Test Method and Type
The SLC25A38 Gene Anemia sideroblastic pyridoxine-refractory autosomal recessive Genetic Test utilizes NGS (Next-Generation Sequencing) technology. NGS genetic testing allows for the simultaneous analysis of multiple genes to identify genetic variations or mutations associated with a particular condition. In the case of SLC25A38 gene-related anemia, NGS genetic testing helps in identifying mutations in the SLC25A38 gene, aiding in the confirmation of a diagnosis of pyridoxine-refractory sideroblastic anemia.
Pre-Test Information
Before undergoing the SLC25A38 Gene Anemia sideroblastic pyridoxine-refractory autosomal recessive Genetic Test, it is essential to provide the clinical history of the patient. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected by SLC25A38 Gene Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive NGS Genetic DNA Test.
It is crucial to note that genetic testing should always be ordered and interpreted by healthcare professionals, such as geneticists or genetic counselors. These professionals can provide appropriate counseling and guidance based on the test results.
Conclusion
The SLC25A38 Gene Anemia sideroblastic pyridoxine-refractory autosomal recessive Genetic Test offered by DNA Labs UAE is an important tool in diagnosing and understanding pyridoxine-refractory sideroblastic anemia. By analyzing the SLC25A38 gene using NGS technology, this test helps in confirming the presence of mutations associated with this specific form of anemia. It is recommended to consult with healthcare professionals for proper interpretation and guidance based on the test results.
| Test Name | SLC25A38 Gene Anemia sideroblastic pyridoxine-refractory autosomal recessive 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 | Hematology |
| Doctor | Hematologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for SLC25A38 Gene Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC25A38 Gene Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive NGS Genetic DNA Test gene SLC25A38 |
| Test Details | The SLC25A38 gene is associated with an autosomal recessive form of anemia called sideroblastic anemia. Sideroblastic anemia is a condition characterized by abnormal iron metabolism in the body, leading to the impaired production of healthy red blood cells. The SLC25A38 gene provides instructions for making a protein called mitochondrial deoxynucleotide carrier (DNC). This protein is involved in the transport of deoxynucleotides, which are essential building blocks for DNA synthesis, into the mitochondria. Mitochondria are the energy-producing structures within cells. Mutations in the SLC25A38 gene can disrupt the function of the DNC protein, leading to impaired mitochondrial function and the development of sideroblastic anemia. Pyridoxine-refractory sideroblastic anemia is a specific form of sideroblastic anemia that does not respond to treatment with pyridoxine (vitamin B6). This type of anemia is often caused by mutations in the SLC25A38 gene. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify genetic variations or mutations that may be associated with a particular condition. In the context of SLC25A38 gene-related anemia, NGS genetic testing can be used to identify mutations in the SLC25A38 gene, helping to confirm a diagnosis of pyridoxine-refractory sideroblastic anemia. It is important to note that genetic testing should be ordered and interpreted by healthcare professionals, such as geneticists or genetic counselors, who can provide appropriate counseling and guidance based on the results. |
