Chromosomal Breakage Analysis for Fanconi’s Anemia

Specimen Required

10cc Sodium Heparin Vial (Three Vials)

Fasting Required

Purpose of the Test

Chromosomal breakage analysis is used to diagnose FA when the condition is suspected based on clinical symptoms or a family history of the disease. It can also be used to confirm a suspected diagnosis or to identify carriers of FA who may be at risk of passing the condition on to their children.

When this test is required

Chromosomal breakage analysis is typically requested when a healthcare provider suspects FA based on symptoms or a family history of the disease. It may also be recommended for individuals who have received inconclusive results from other genetic tests or who are at risk of being carriers of the condition.

What the Test Detects

The test involves exposing a sample of the patient’s blood cells to a chemical or radiation that damages DNA and induces chromosomal breaks. The cells are then evaluated for their ability to repair the breaks, as well as the frequency and type of breaks that occur. In patients with FA, the cells are unable to repair chromosomal breaks, resulting in an increased frequency of breaks and abnormal chromosomes.

Preparation for the Test

There is no specific test preparation needed for chromosomal breakage analysis. However, it is important to inform your healthcare provider of any medications or supplements you are taking, as some may interfere with the results. Your healthcare provider will provide specific instructions on how to prepare for the test, such as fasting before the blood draw or avoiding certain medications.

Sample Requirements

The sample required for chromosomal breakage analysis is typically a blood sample, which is collected from a vein in the arm using a needle. In some cases, other tissues or fluids may be used, such as bone marrow or amniotic fluid during pregnancy.

Additional Notes

It is important to note that chromosomal breakage analysis may not identify all cases of FA, as there are several genes involved in the condition and some mutations may not result in abnormal results on the test. Additionally, it is important to follow your healthcare provider’s instructions for preparing for the test and to discuss any questions or concerns you may have about the test or its results.

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