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RPL5 Gene Diamond-Blackfan Anemia Type 6 Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The RPL5 Gene Diamond-Blackfan Anemia Type 6 Genetic Test is a specialized diagnostic procedure offered at DNA Labs UAE, designed to identify mutations in the RPL5 gene, which are linked to Diamond-Blackfan Anemia (DBA) Type 6. Diamond-Blackfan Anemia is a rare inherited bone marrow failure syndrome characterized by an inability to produce red blood cells, leading to severe anemia and various other congenital abnormalities. The RPL5 gene plays a crucial role in the production of ribosomes, which are essential for protein synthesis within cells. Mutations in this gene disrupt normal ribosome function, which is a hallmark of DBA.

This genetic test involves collecting a DNA sample, typically through a blood draw, and analyzing it for specific mutations in the RPL5 gene. Identifying these mutations can confirm a diagnosis of DBA Type 6, which is crucial for developing an effective treatment plan and providing genetic counseling. The test is priced at 4400 AED and is conducted in the state-of-the-art facilities of DNA Labs UAE, ensuring accurate and reliable results. Early diagnosis through this genetic test can significantly improve the quality of life for affected individuals by enabling timely interventions and management of symptoms associated with Diamond-Blackfan Anemia.

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RPL5 Gene Diamond-Blackfan Anemia Type 6 Genetic Test

Welcome to DNA Labs UAE, a leading genetic lab offering the RPL5 Gene Diamond-Blackfan Anemia Type 6 Genetic Test. In this blog, we will provide detailed information about the test, including its components, cost, symptoms, diagnosis, and more.

Test Details

The RPL5 gene is responsible for producing a protein called ribosomal protein L5, which is essential for protein synthesis. Diamond-Blackfan anemia (DBA) is a rare genetic disorder characterized by a deficiency in red blood cell production. Typically diagnosed in infancy or early childhood, DBA can cause symptoms such as severe anemia, low red blood cell count, and physical abnormalities.

NGS Technology

Our RPL5 Gene Diamond-Blackfan Anemia Type 6 Genetic Test utilizes Next-Generation Sequencing (NGS) technology. NGS allows for the simultaneous sequencing of multiple genes or the entire genome, making it a highly efficient and cost-effective method for identifying genetic variations or mutations associated with DBA. By sequencing the entire coding region of the RPL5 gene, our test can identify any genetic variations or mutations that may be present, helping to confirm a diagnosis of DBA and provide information about the specific genetic variant causing the condition.

Test Components and Price

The RPL5 Gene Diamond-Blackfan Anemia Type 6 Genetic Test is priced at 4400.0 AED. The test can be performed using blood or extracted DNA, or even just one drop of blood on an FTA card. The report delivery time is typically 3 to 4 weeks.

Diagnosis and Pre-Test Information

If you or your patient is considering the RPL5 Gene Diamond-Blackfan Anemia Type 6 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by the RPL5 gene. This information will help our hematologists and geneticists make an accurate diagnosis and provide appropriate counseling and guidance based on the test results.

Conclusion

At DNA Labs UAE, we are committed to providing accurate and reliable genetic testing services. Our RPL5 Gene Diamond-Blackfan Anemia Type 6 Genetic Test utilizes NGS technology to identify genetic variations or mutations associated with DBA. By confirming a diagnosis and providing information about the specific genetic variant causing the condition, our test can assist in developing a personalized treatment plan. Trust our qualified healthcare professionals to perform and interpret the test results, ensuring you receive the best possible care and guidance.

Test Name RPL5 Gene Diamond-Blackfan anemia type 6 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 RPL5 Gene Diamond-Blackfan anemia type 6 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RPL5 Gene Diamond-Blackfan anemia type 6 NGS Genetic DNA Test gene RPL5
Test Details

The RPL5 gene is a gene that provides instructions for making a protein called ribosomal protein L5. This protein is a component of the ribosome, which is the cellular machinery responsible for protein synthesis.

Diamond-Blackfan anemia (DBA) is a rare genetic disorder characterized by a failure of the bone marrow to produce an adequate number of red blood cells. It is typically diagnosed in infancy or early childhood and can lead to symptoms such as severe anemia, low red blood cell count, and physical abnormalities.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous sequencing of multiple genes or the entire genome. It is a highly efficient and cost-effective method for identifying genetic variations or mutations that may be associated with a particular condition, such as DBA.

In the context of DBA, an NGS genetic test for RPL5 gene would involve sequencing the entire coding region of the RPL5 gene to identify any genetic variations or mutations that may be present. This test can help confirm a diagnosis of DBA and provide information about the specific genetic variant causing the condition.

It is important to note that genetic testing, including NGS testing, should be performed and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, who can provide appropriate counseling and guidance based on the results.