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

ERCC4 Gene Fanconi Anemia: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

Fanconi anemia is a rare genetic disorder that affects the bone marrow and increases the risk of cancer. It is caused by mutations in genes that are responsible for repairing damaged DNA. One of these genes is the ERCC4 gene, which is also known as complementation group Q (FANQ). In this blog, we will discuss the symptoms, diagnosis, and NGS genetic DNA test cost for ERCC4 Gene Fanconi anemia.

Symptoms of ERCC4 Gene Fanconi Anemia

ERCC4 Gene Fanconi Anemia can present with a variety of symptoms. These can include:

• Abnormal skin pigmentation
• Short stature
• Abnormalities in the hands and arms
• Inability to produce sperm
• Increased risk of cancer, especially leukemia and solid tumors

These symptoms may not be present at birth, but they can develop over time. Individuals with ERCC4 Gene Fanconi Anemia may also have a weakened immune system, which can lead to frequent infections.

Diagnosis of ERCC4 Gene Fanconi Anemia

Diagnosis of ERCC4 Gene Fanconi Anemia is usually based on clinical symptoms and genetic testing. A blood test can be done to look for mutations in the ERCC4 gene. If a mutation is found, additional testing may be done to confirm the diagnosis.

It is important to diagnose ERCC4 Gene Fanconi Anemia early, as it can increase the risk of cancer. Regular check-ups and cancer screening can help detect any abnormalities early on.

NGS Genetic DNA Test Cost for ERCC4 Gene Fanconi Anemia

NGS (Next Generation Sequencing) Genetic DNA testing is a powerful tool for diagnosing genetic disorders. The cost of NGS testing for ERCC4 Gene Fanconi Anemia in India is around INR 20,000.

This test can identify mutations in the ERCC4 gene with high accuracy. It can also help identify carriers of the mutation, which can be helpful for family planning and genetic counseling.

Conclusion

ERCC4 Gene Fanconi Anemia is a rare genetic disorder that can increase the risk of cancer. It is important to diagnose this condition early, as regular check-ups and cancer screening can help detect any abnormalities early on. NGS genetic DNA testing is a powerful tool for diagnosing ERCC4 Gene Fanconi Anemia, and it is relatively affordable in India.

If you suspect that you or someone in your family may have ERCC4 Gene Fanconi Anemia, it is important to consult a genetic counselor or healthcare provider. They can help you understand the risks and benefits of genetic testing and provide guidance on the best course of action.