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Accurate Test Results for RPS10 Gene Diamond-Blackfan anemia type 9 NGS Genetic DNA Test
RPS10 Gene Diamond-Blackfan anemia type 9 NGS Genetic DNA Test Cost 20000 Rs
RPS10 Gene Diamond-Blackfan anemia type 9 NGS Genetic DNA Test Details
RPS10 Gene Diamond-Blackfan Anemia Type 9 NGS Genetic DNA Test: Cost, Symptoms, Diagnosis
Diamond-Blackfan anemia (DBA) is a rare genetic disorder that affects the production of red blood cells in the bone marrow. It is caused by mutations in several different genes, including the RPS10 gene. RPS10 gene mutations are associated with Diamond-Blackfan anemia type 9 (DBA9). The RPS10 gene provides instructions for making a protein that is essential for the formation of ribosomes, which are the cell's protein-making machinery.
Symptoms of DBA9
The symptoms of DBA9 usually appear in the first year of life and may include:
- Failure to thrive
- Low red blood cell count (anemia)
- Pale skin
- Irritability
- Weakness and fatigue
- Delayed growth and development
- Birth defects affecting the heart, kidneys, or other organs
DBA9 can also cause an increased risk of developing certain cancers, such as leukemia and bone marrow failure.
Diagnosis of DBA9
Diagnosis of DBA9 typically involves a combination of blood tests, bone marrow biopsy, and genetic testing. A bone marrow biopsy involves removing a small sample of bone marrow from the hip or breastbone and examining it under a microscope to look for abnormalities in the production of red blood cells. Genetic testing can identify mutations in the RPS10 gene or other genes associated with DBA.
NGS Genetic DNA Test for RPS10 Gene DBA9
A next-generation sequencing (NGS) genetic DNA test can identify mutations in the RPS10 gene associated with DBA9. This test uses advanced technology to analyze the DNA sequence of the RPS10 gene and identify any mutations that may be present.
Cost of NGS Genetic DNA Test for RPS10 Gene DBA9
The cost of an NGS genetic DNA test for the RPS10 gene associated with DBA9 can vary depending on the laboratory performing the test and the specific tests requested. On average, the cost of this test in India is around INR 20,000.
Conclusion
DBA9 is a rare genetic disorder that can cause a range of symptoms related to anemia, delayed growth and development, and an increased risk of certain cancers. Diagnosis typically involves blood tests, bone marrow biopsy, and genetic testing. An NGS genetic DNA test can identify mutations in the RPS10 gene associated with DBA9. While the cost of this test can vary, it is an important diagnostic tool for identifying this rare genetic disorder and providing appropriate treatment and care.
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