Short Description

NGS genetic DNA test detecets for variant and mutation detection in RPS19 gene for Diamond-Blackfan anemia type 1

PreTest Information

Clinical History of Patient who is going for RPS19 Gene Diamond-Blackfan anemia type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RPS19 Gene Diamond-Blackfan anemia type 1 NGS Genetic DNA Test gene RPS19

Detail Description

RPS19 Gene Diamond-Blackfan Anemia Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Diamond-Blackfan anemia (DBA) is a rare genetic disorder that affects the ability of the bone marrow to produce red blood cells. It is characterized by a low number of red blood cells, which can lead to fatigue, weakness, and an increased risk of infections. DBA is caused by mutations in genes that regulate the production of red blood cells, including the RPS19 gene.

Symptoms of DBA

The symptoms of DBA can vary from person to person, but they generally include:

• Fatigue
• Weakness
• Pale skin
• Shortness of breath
• Delayed growth and development
• Increased risk of infections

Diagnosis of DBA

DBA is typically diagnosed in infancy or early childhood. A doctor may suspect DBA if a child has a low red blood cell count and other symptoms of anemia. To confirm the diagnosis, a doctor may perform:

• A complete blood count (CBC) to measure the number of red blood cells, white blood cells, and platelets in the blood
• A bone marrow biopsy to examine the bone marrow cells
• Genetic testing to look for mutations in genes associated with DBA

RPS19 Gene Diamond-Blackfan Anemia Type 1 NGS Genetic DNA Test

The RPS19 gene is one of the genes that can be mutated in DBA. A next-generation sequencing (NGS) genetic DNA test can identify mutations in the RPS19 gene and other genes associated with DBA. This test can be used to confirm a diagnosis of DBA and to identify family members who may be at risk of developing the condition.

Cost of RPS19 Gene Diamond-Blackfan Anemia Type 1 NGS Genetic DNA Test

The cost of the RPS19 Gene Diamond-Blackfan Anemia Type 1 NGS Genetic DNA Test in India is INR 20000. This cost may vary depending on the laboratory that performs the test.

Conclusion

DBA is a rare genetic disorder that can cause a low red blood cell count and other symptoms of anemia. The RPS19 Gene Diamond-Blackfan Anemia Type 1 NGS Genetic DNA Test can help diagnose DBA and identify family members who may be at risk of developing the condition. If you or someone you know is experiencing symptoms of DBA, it is important to speak with a doctor and consider genetic testing.

At DNA Labs India, we offer a wide range of genetic testing services, including the RPS19 Gene Diamond-Blackfan Anemia Type 1 NGS Genetic DNA Test. Contact us today to learn more about our services and how we can help you.