Fanconi Anemia (Mitomycin assay) Test

Fanconi anemia (FA) is a genetic disorder that ultimately leads to bone marrow failure. Your bone marrow is responsible for making three different types of blood cells in your body. These include red blood cells, which bring oxygen to your tissues and organs, white blood cells, which fight infections, and platelets, which promote blood clotting to stop bleeding. FA test is generally conducted by a genetic test via a blood sample. It is natural for your blood cells to die. If your bone marrow isn’t replacing dead blood cells, you’ll develop bone marrow failure.

It is recommended that you should either wear a sleeve-less or a short-sleeved shirt to make it easier for you and the technician who will be drawing the blood. Wearing a shirt with full- sleeves that can easily be rolled-up is also fine. There is no need to disturb your diet routine before a FA test. You can eat and drink normally.

FA is often diagnosed at birth or soon after because it affects the way your bone marrow produces blood cells. When you don't have a sufficient number of blood cells you’ll begin to experience the following: Aplastic anaemia Birth defects such as eye and ear defects, skin discoloration, kidney problems, congenital heart defects etc Developmental problems such as low birth weight, poor appetite, delayed growth, a smaller-than-normal height, a smaller-than-normal head size and intellectual disability Adults who are diagnosed later in life will usually experience a completely different set of symptoms. The symptoms in adults will usually affect the sexual organs or the reproductive system. The symptoms in women include periods that occur later than normal, fertility issues, frequent miscarriages, early menopause etc. Men with FA may experience fertility issues and have smaller-than-normal genitals.

A band is wrapped around the arm, 3-4 inches above the collection site (superficial vein that lies within the elbow pit) A 70% alcohol pad is used to clean the skin A needle is then kept in line with and injected into a vein that can be seen from the skin The blood is dragged out from the needle by a nozzle, saved in a vessel and sealed with your name The sample is then taken to a lab for examination.