Short Description

NGS genetic DNA test detecets for variant and mutation detection in RPS7 gene for Diamond-Blackfan anemia type 8

PreTest Information

Clinical History of Patient who is going for RPS7 Gene Diamond-Blackfan anemia type 8 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RPS7 Gene Diamond-Blackfan anemia type 8 NGS Genetic DNA Test gene RPS7

Detail Description

RPS7 Gene Diamond-Blackfan Anemia Type 8 NGS Genetic DNA Test

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 genes, including the RPS7 gene. DBA is often diagnosed in infancy or early childhood, and symptoms can vary from mild to severe.

The RPS7 gene is responsible for producing a protein called ribosomal protein S7, which is essential for the production of red blood cells. Mutations in this gene can disrupt the production of this protein, leading to DBA.

Symptoms of Diamond-Blackfan Anemia Type 8

The symptoms of DBA can vary depending on the severity of the condition. Some common symptoms of DBA type 8 include:

• Pale skin
• Fatigue
• Irritability
• Shortness of breath
• Rapid heartbeat
• Delayed growth and development

Some people with DBA may also have physical abnormalities, such as a small head, low-set ears, and a small jaw.

Diagnosis of Diamond-Blackfan Anemia Type 8

DBA is typically diagnosed through a combination of physical exams, blood tests, and genetic testing. A blood test can reveal low levels of red blood cells, and genetic testing can identify mutations in the RPS7 gene.

RPS7 Gene Diamond-Blackfan Anemia Type 8 NGS Genetic DNA Test Cost

The cost of the RPS7 Gene Diamond-Blackfan Anemia Type 8 NGS Genetic DNA Test is INR 20,000. This test uses next-generation sequencing (NGS) technology to analyze the RPS7 gene and identify any mutations that may be causing DBA.

NGS technology is a powerful tool that can quickly and accurately analyze large amounts of genetic data. This makes it an ideal tool for diagnosing genetic disorders like DBA.

Conclusion

If you or someone you know is experiencing symptoms of Diamond-Blackfan anemia, it is important to seek medical attention. The RPS7 Gene Diamond-Blackfan Anemia Type 8 NGS Genetic DNA Test can help diagnose this rare genetic disorder and provide valuable information for treatment and management.

At DNA Labs India, we offer a range of genetic testing services, including the RPS7 Gene Diamond-Blackfan Anemia Type 8 NGS Genetic DNA Test. Contact us today to learn more about our services and how we can help you.