Short Description

NGS genetic DNA test detecets for variant and mutation detection in RPS24 gene for Diamond-blackfan anemia type 3

PreTest Information

Clinical History of Patient who is going for RPS24 Gene Diamond-blackfan anemia type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RPS24 Gene Diamond-blackfan anemia type 3 NGS Genetic DNA Test gene RPS24

Detail Description

RPS24 Gene Diamond-Blackfan Anemia Type 3 NGS Genetic DNA Test

Diamond-Blackfan Anemia (DBA) is a rare genetic disorder characterized by a failure of the bone marrow to produce red blood cells. This leads to anemia, which is a condition in which the body does not have enough red blood cells to carry oxygen to the tissues. DBA is caused by mutations in one of several genes, including the RPS24 gene.

RPS24 gene Diamond-Blackfan anemia type 3 NGS genetic DNA test is a diagnostic test that can identify mutations in the RPS24 gene that cause DBA. The test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the RPS24 gene and detect any mutations that may be present.

Symptoms of Diamond-Blackfan Anemia

The symptoms of DBA usually appear within the first few months of life. They include:

• Severe anemia
• Pale skin
• Fatigue or weakness
• Rapid heartbeat
• Shortness of breath
• Jaundice
• Enlarged spleen or liver

Children with DBA may also be at increased risk of developing infections due to a weakened immune system.

Diagnosis of Diamond-Blackfan Anemia

Diagnosis of DBA is based on a combination of clinical symptoms and laboratory tests. A complete blood count (CBC) can reveal anemia and other abnormalities in the blood. A bone marrow biopsy may also be performed to confirm the diagnosis and determine the severity of the anemia.

Genetic testing, such as the RPS24 gene Diamond-Blackfan anemia type 3 NGS genetic DNA test, can identify the specific genetic mutation responsible for the disorder. This information can be used to inform treatment decisions and provide valuable information for family planning.

Cost of RPS24 Gene Diamond-Blackfan Anemia Type 3 NGS Genetic DNA Test

The cost of the RPS24 gene Diamond-Blackfan anemia type 3 NGS genetic DNA test in India is approximately INR 20,000. The cost may vary depending on the laboratory and location.

Conclusion

The RPS24 gene Diamond-Blackfan anemia type 3 NGS genetic DNA test is a valuable tool for diagnosing DBA and identifying the specific genetic mutation responsible for the disorder. Early diagnosis and appropriate treatment can improve outcomes for children with DBA. If you suspect that you or your child may have DBA, speak to your doctor about genetic testing options.

At DNA Labs India, we offer a wide range of genetic testing services, including the RPS24 gene Diamond-Blackfan anemia type 3 NGS genetic DNA test. Contact us today to learn more about our services and how we can help you.