Short Description

NGS genetic DNA test detecets for variant and mutation detection in ERCC4 gene for Fanconi anemia, complementation group Q

PreTest Information

Clinical History of Patient who is going for ERCC4 Gene Fanconi anemia, complementation group Q NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC4 Gene Fanconi anemia, complementation group Q NGS Genetic DNA Test gene ERCC4

Detail Description

Understanding ERCC4 Gene Fanconi Anemia, Complementation Group Q

ERCC4 Gene Fanconi Anemia, Complementation Group Q is a rare genetic disorder that affects the body's ability to repair damaged DNA. This condition is caused by mutations in the ERCC4 gene, which provides instructions for creating an enzyme that helps repair damaged DNA.

Individuals with ERCC4 Gene Fanconi Anemia, Complementation Group Q have a higher risk of developing certain types of cancer, including leukemia and solid tumors. They may also experience bone marrow failure, which can lead to a decrease in the number of red blood cells, white blood cells, and platelets in the body.

Symptoms of ERCC4 Gene Fanconi Anemia, Complementation Group Q

The symptoms of ERCC4 Gene Fanconi Anemia, Complementation Group Q can vary depending on the severity of the condition. Some individuals may experience no symptoms at all, while others may experience:

• Anemia
• Low platelet count
• Increased risk of infection
• Delayed growth and development
• Skeletal abnormalities
• Increased risk of cancer

Diagnosing ERCC4 Gene Fanconi Anemia, Complementation Group Q

ERCC4 Gene Fanconi Anemia, Complementation Group Q is typically diagnosed through genetic testing. This involves analyzing a sample of the individual's DNA to look for mutations in the ERCC4 gene. A blood test may also be conducted to check for abnormalities in blood cell counts.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA Testing for ERCC4 Gene Fanconi Anemia, Complementation Group Q in India is approximately INR 20,000. This cost may vary depending on the laboratory and specific testing procedures used.

Treatment for ERCC4 Gene Fanconi Anemia, Complementation Group Q

There is currently no cure for ERCC4 Gene Fanconi Anemia, Complementation Group Q. Treatment typically involves managing symptoms and reducing the risk of developing cancer. This may include blood transfusions, bone marrow transplants, and regular cancer screenings.

Conclusion

ERCC4 Gene Fanconi Anemia, Complementation Group Q is a rare genetic disorder that can have serious health consequences. Early diagnosis through genetic testing is crucial for managing symptoms and reducing the risk of developing cancer. If you suspect that you or a loved one may have this condition, speak with a healthcare professional about genetic testing options.

At DNA Labs India, we offer a range of genetic testing services, including NGS Genetic DNA Testing for ERCC4 Gene Fanconi Anemia, Complementation Group Q. Contact us today to learn more about our services and schedule a consultation.