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RPS17 Gene Diamond-Blackfan Anemia Type 4 Genetic Test

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

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The RPS17 Gene Diamond-Blackfan Anemia Type 4 Genetic Test is a specialized diagnostic assessment performed to identify mutations in the RPS17 gene, which are associated with Diamond-Blackfan Anemia (DBA) Type 4. DBA is a rare, inherited bone marrow failure disorder characterized by anemia that typically presents in infancy or early childhood. The disorder results from defects in ribosome synthesis, and the RPS17 gene, coding for a component of the ribosome, is one of the several genes implicated in this condition.

This genetic test involves analyzing the patient’s DNA to detect mutations in the RPS17 gene that are known to cause DBA Type 4. Identifying these mutations can confirm a diagnosis of DBA Type 4, which is crucial for the management and treatment of the condition. It also provides valuable information for family planning and genetic counseling for affected families.

The test is available at DNA Labs UAE, a leading provider of genetic testing services in the United Arab Emirates. The cost of the test is 4400 AED, reflecting the comprehensive analysis and the specialized technology required to accurately identify mutations in the RPS17 gene. The results from this test can help guide clinical decisions, including the need for bone marrow transplantation, and enable affected families to receive tailored support and counseling.

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RPS17 Gene Diamond-Blackfan Anemia Type 4 Genetic Test

At DNA Labs UAE, we offer the RPS17 Gene Diamond-Blackfan Anemia Type 4 Genetic Test at a cost of AED 4400.0. This test is used to diagnose Diamond-Blackfan anemia type 4, a rare genetic disorder characterized by a failure of the bone marrow to produce red blood cells.

Test Details

The RPS17 gene is associated with Diamond-Blackfan anemia (DBA) type 4. DBA is typically diagnosed in infancy or early childhood and can lead to symptoms such as severe anemia, fatigue, pale skin, and other complications.

Our RPS17 Gene Diamond-Blackfan Anemia Type 4 Genetic Test utilizes NGS (Next-Generation Sequencing) technology, which allows for a comprehensive evaluation of genetic variations. By analyzing multiple genes simultaneously, we can identify mutations or variations in the RPS17 gene that may be responsible for the condition.

To conduct the test, we require a DNA sample, which can be obtained through a blood sample, extracted DNA, or one drop of blood on an FTA card. The sample will then be analyzed using NGS technology.

The test results will be delivered within 3 to 4 weeks, and the report will be provided by our Hematology department. Our team of experienced Hematologists will ensure accurate diagnosis and interpretation of the results.

Pre Test Information

Before undergoing the RPS17 Gene Diamond-Blackfan Anemia Type 4 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected by the RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic DNA Test gene RPS17.

Importance of Genetic Testing

NGS genetic testing for DBA type 4 can provide valuable information for diagnosis, genetic counseling, and potential treatment options. It can help confirm a suspected diagnosis, identify carriers of the gene mutation, and guide family planning decisions.

It is crucial to note that genetic testing should be conducted and interpreted by healthcare professionals experienced in genetic diagnostics. They can provide appropriate counseling and support based on the results of the test.

At DNA Labs UAE, we are dedicated to providing accurate and reliable genetic testing services. Our Genetics department specializes in genetic diagnostics, ensuring the highest level of expertise and care.

Test Name RPS17 Gene Diamond-Blackfan anemia type 4 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 RPS17 Gene Diamond-Blackfan anemia type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RPS17 Gene Diamond-Blackfan anemia type 4 NGS Genetic DNA Test gene RPS17
Test Details

The RPS17 gene is associated with Diamond-Blackfan anemia (DBA) type 4, which is a rare genetic disorder characterized by a failure of the bone marrow to produce red blood cells. DBA is typically diagnosed in infancy or early childhood and can lead to symptoms such as severe anemia, fatigue, pale skin, and other complications.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, allowing for a comprehensive evaluation of genetic variations. In the context of DBA type 4, NGS genetic testing can identify mutations or variations in the RPS17 gene that may be responsible for the condition.

The test involves obtaining a DNA sample, usually through a blood sample or saliva collection, and analyzing the genetic material using NGS technology. The genetic information is compared to a reference genome to identify any variations or mutations in the RPS17 gene associated with DBA type 4.

NGS genetic testing for DBA type 4 can provide valuable information for diagnosis, genetic counseling, and potential treatment options. It can help confirm a suspected diagnosis, identify carriers of the gene mutation, and guide family planning decisions.

It is important to note that genetic testing should be conducted and interpreted by healthcare professionals experienced in genetic diagnostics. They can provide appropriate counseling and support based on the results of the test.

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