Summarize:

These signs are only symptoms, suggesting a person may have Fanconi anemia. Only a doctor will be able to arrange for a test to actually determine if that person has the disease. Before taking any test, the doctor should know of any other conditions that might affect it. That includes family history, medication, recent blood transfusions, or other diseases. Fanconi anemia is a type of aplastic anemia, which means the bone marrow is damaged and not producing blood cells properly. To test, the doctor will use a need to draw blood, usually from the arm. That blood will then be analyzed under a microscope, to either do a complete blood count (CBC), or a reticulocyte count. In a CBC, a sample of the blood will be smeared onto a slide and viewed under a microscope. A doctor will then count the number of cells, and make sure there are proper amounts of red blood cells, white blood cells, and platelets. For aplastic anemia, the doctor will be looking at the red blood cells to see if their number is greatly reduced, their size increased, and if there are many abnormally shaped cells. In a reticulocyte count, the doctor will view the blood under a microscope and count the Reticulocytes. These are immediate precursors of RBCs. Their percentage in the blood is can suggest how well bone marrow is producing blood cells. In aplastic anemia this value will be greatly reduced, almost near zero. The doctor will take a few cells from the skin and artificially growing those cells in a chemical environment. If the sample has FA, the culture will stop growing at an abnormal phase, which the tester will see. This test draws out some of your bone marrow so it can be directly tested. After numbing the skin with a local anesthesia, the doctor will stick a thick and wide metallic needle into to a bone, usually the shin bone, the upper part of breastbone, or the hipbone. If the subject is a child or non-cooperative, the doctor may use a general anesthesia to put them to sleep for the needle. Even with anesthesia, the procedure is still quite painful. There many nerves inside the bone where a local anesthetic cannot be given with ordinary needles. After inserting the needle to a certain depth, a syringe is attached to the needle and plunger is gently pulled. The yellowish liquid that comes out is bone marrow. The liquid is then tested to see if enough blood cells are being produced. The pain will usually go away soon after withdrawal of the needle. Sometimes, the marrow may become solid and fibrous during prolonged inactivity. In that case, nothing will come out during needle aspiration, which is called a "dry tap." If the patient has a "dry tap," the doctor will probably then do a bone marrow biopsy to see the exact condition of the marrow. The procedure is similar to the aspiration, this time using a wider needle, and cutting out a piece of bone marrow tissue. The tissue is then examined under microscope to test the percentage of damaged cells.
Talk to a doctor. Get tested for aplastic anemia. Agree to a cytometric flow test. Undergo bone marrow aspiration. Have a bone marrow biopsy.