Short Description

NGS genetic DNA test detecets for variant and mutation detection in FANCI gene for Fanconi anemia type I

PreTest Information

Clinical History of Patient who is going for FANCI Gene Fanconi anemia type I NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Fanconi anemia type I

Detail Description

FANCI Gene Fanconi Anemia Type I NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Fanconi Anemia Type I (FA) is a rare genetic disorder that affects the bone marrow, causing a decrease in the production of red and white blood cells and platelets. FA is caused by mutations in genes that play a critical role in DNA repair, including the FANCI gene. The FANCI gene provides instructions for making a protein that is involved in repairing damaged DNA. Mutations in the FANCI gene prevent the protein from functioning correctly, leading to the development of FA.

Symptoms of FA

The symptoms of FA can vary widely, but most people with the condition experience bone marrow failure, which can cause:

• Anemia
• Weakness and fatigue
• Infections
• Bleeding and bruising
• Shortness of breath

Other signs and symptoms of FA may include:

• Birth defects
• Growth delays
• Hearing loss
• Skeletal abnormalities
• Skin discoloration

Diagnosis of FA

FA is typically diagnosed through a combination of physical exams, blood tests, and genetic testing. Doctors may also use imaging tests, such as X-rays and CT scans, to evaluate any skeletal abnormalities that may be present.

The genetic testing for FA involves analyzing DNA samples to look for mutations in the FANCI gene and other genes associated with the condition. This testing can help confirm a diagnosis of FA and identify carriers of the condition who may be at risk of passing it on to their children.

Cost of FANCI Gene Fanconi Anemia Type I NGS Genetic DNA Test

The cost of the FANCI Gene Fanconi Anemia Type I NGS Genetic DNA Test in India is approximately INR 20,000. However, the cost may vary depending on the testing facility and any additional tests that may be required.

Conclusion

Fanconi Anemia Type I is a rare genetic disorder that can cause a range of symptoms and complications. Genetic testing, including the FANCI Gene Fanconi Anemia Type I NGS Genetic DNA Test, can help diagnose the condition and identify carriers. While the cost of the test may vary, it is an important tool in managing and treating FA.

If you suspect that you or a loved one may have FA, or if you have concerns about your risk of passing on the condition to your children, talk to your doctor about genetic testing options.