Short Description

Chromosomes from a patient with a congenital form of bone marrow failure, Fanconi's anemia (FA), are sensitive to clastogenic agents (chemicals causing DNA breakage) like Mitomycin C (MMC). The effect of MMC on lymphocytes in culture is used to differentiate reliably between FA patients with chromosome instability and Idiopathic aplastic anemia.

PreTest Information

Give brief clinical history.

Detail Description

Fanconi's Anemia: Symptoms, Diagnosis and Cost of Stress Cytogenetics Test in India

Fanconi's Anemia is a rare genetic disorder that affects the bone marrow and causes a decrease in the production of blood cells. This condition is caused by mutations in certain genes that are responsible for repairing damaged DNA. Fanconi's Anemia can lead to a range of health problems, including a higher risk of cancer and other blood-related disorders.

Symptoms of Fanconi's Anemia

The symptoms of Fanconi's Anemia can vary from person to person and may include:

• Abnormal skin pigmentation
• Abnormalities in the bone structure
• Growth retardation
• Increased susceptibility to infections
• Low blood count

If you or someone you know is experiencing any of these symptoms, it is important to consult a doctor for proper diagnosis and treatment.

Diagnosis of Fanconi's Anemia

Fanconi's Anemia is diagnosed through a combination of physical exams, medical history, and genetic testing. A doctor may perform a blood test to check for low blood counts and other abnormalities. They may also take a sample of bone marrow for testing. Genetic testing can identify mutations in the genes associated with Fanconi's Anemia.

Cytogenetics Test for Fanconi's Anemia

A cytogenetics test is used to detect chromosomal abnormalities that may be associated with Fanconi's Anemia. This test examines the chromosomes in a person's cells to check for any abnormalities. The cost of a stress cytogenetics test for Fanconi's Anemia in India is typically around INR 11,000.

Conclusion

Fanconi's Anemia is a rare genetic disorder that can lead to serious health problems. If you or someone you know is experiencing any symptoms of Fanconi's Anemia, it is important to consult a doctor for proper diagnosis and treatment. A cytogenetics test can help identify any chromosomal abnormalities associated with the condition. The cost of a stress cytogenetics test for Fanconi's Anemia in India is around INR 11,000.

It is important to remember that early detection and treatment can help manage the symptoms and improve the quality of life for those with Fanconi's Anemia.