Description
Why It’s Done
This test is recommended to:
• Confirm a diagnosis of Fanconi Anemia in individuals showing signs such as:
o Bone marrow failure (aplastic anemia)
o Congenital abnormalities (e.g., skeletal defects, short stature)
o Skin pigmentation changes
o Developmental delays
• Distinguish Fanconi Anemia from other causes of pancytopenia or bone marrow disorders.
• Screen siblings or family members if a genetic history of FA is present.
• Guide treatment planning, including decisions about bone marrow transplantation.
Preparation
• No special preparation is typically required.
• A blood sample (or sometimes skin biopsy in certain cases) is collected for testing.
• Inform your doctor of any family history of anemia, birth defects, or genetic disorders.
• If the patient has recently received a blood transfusion, the doctor may recommend delaying the test or using an alternative tissue source like skin fibroblasts.
