RPL15 Gene Diamond-Blackfan Anemia Type 12 Genetic Test
Test Details
The RPL15 gene is associated with Diamond-Blackfan anemia type 12. Diamond-Blackfan anemia (DBA) is a rare genetic disorder characterized by a failure of the bone marrow to produce enough red blood cells. It is typically diagnosed in infancy or early childhood and can lead to symptoms such as anemia, pale skin, fatigue, and growth retardation.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the context of Diamond-Blackfan anemia, NGS genetic testing can be used to identify mutations or variations in the RPL15 gene that may be causing the condition.
The RPL15 gene provides instructions for making a protein called ribosomal protein L15, which is a component of the ribosome, the cellular machinery responsible for protein synthesis. Mutations in the RPL15 gene can disrupt normal ribosome function, leading to the production of fewer red blood cells and the development of Diamond-Blackfan anemia.
NGS genetic testing for Diamond-Blackfan anemia type 12 involves obtaining a DNA sample, typically through a blood sample or cheek swab, and sequencing the RPL15 gene. The results of the test can help confirm a diagnosis of Diamond-Blackfan anemia type 12 and provide information about the specific mutation or variation in the RPL15 gene that is present.
Test Name: RPL15 Gene Diamond-Blackfan Anemia Type 12 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 RPL15 Gene Diamond-Blackfan anemia type 12 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RPL15 Gene Diamond-Blackfan anemia type 12 NGS Genetic DNA Test gene RPL15.
Benefits of Genetic Testing for Diamond-Blackfan Anemia
Genetic testing for Diamond-Blackfan anemia can be useful for diagnostic purposes, as well as for family planning and genetic counseling. It can help determine the risk of passing on the condition to future generations and guide treatment decisions.
It is important to note that genetic testing should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support.
| Test Name | RPL15 Gene Diamond-Blackfan anemia type 12 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 RPL15 Gene Diamond-Blackfan anemia type 12 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RPL15 Gene Diamond-Blackfan anemia type 12 NGS Genetic DNA Test gene RPL15 |
| Test Details |
The RPL15 gene is associated with Diamond-Blackfan anemia type 12. Diamond-Blackfan anemia (DBA) is a rare genetic disorder characterized by a failure of the bone marrow to produce enough red blood cells. It is typically diagnosed in infancy or early childhood and can lead to symptoms such as anemia, pale skin, fatigue, and growth retardation. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the context of Diamond-Blackfan anemia, NGS genetic testing can be used to identify mutations or variations in the RPL15 gene that may be causing the condition. The RPL15 gene provides instructions for making a protein called ribosomal protein L15, which is a component of the ribosome, the cellular machinery responsible for protein synthesis. Mutations in the RPL15 gene can disrupt normal ribosome function, leading to the production of fewer red blood cells and the development of Diamond-Blackfan anemia. NGS genetic testing for Diamond-Blackfan anemia type 12 involves obtaining a DNA sample, typically through a blood sample or cheek swab, and sequencing the RPL15 gene. The results of the test can help confirm a diagnosis of Diamond-Blackfan anemia type 12 and provide information about the specific mutation or variation in the RPL15 gene that is present. Genetic testing for Diamond-Blackfan anemia can be useful for diagnostic purposes, as well as for family planning and genetic counseling. It can help determine the risk of passing on the condition to future generations and guide treatment decisions. It is important to note that genetic testing should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support. |
