Chromosome DEB Assay for Fanconi anemia

No. This assay is meant to diagnose Fanconi anemia in patients suspected of having the disorder. This assay will not detect carriers of the disease. Fanconi anemia carrier studies for individuals of Ashkenazi Jewish origin are available, using test code 90897, Fanconi Anemia DNA Mutation Analysis.

In some instances, breakage can be observed in other tissue types, even when it cannot be detected in a peripheral blood specimen. If clinical suspicion is high, consider submitting a skin biopsy sample or fibroblast culture for Chromosome Analysis, Fanconi Anemia, Prenatal, test code 14259.

In some instances, breakage can be observed in other tissue types, even when it cannot be detected conclusively in a peripheral blood specimen. Consider ordering Fanconi anemia studies on fibroblast cultures from a skin biopsy. If not available, a second peripheral blood sample could be submitted. Please call Quest Genomics Client Services at 866-GENE-INFO to coordinate these studies with a genetic counselor.

Although the DEB clastogen assay is considered highly sensitive, there is a possibility of very rare false-negative and false-positive results. Therefore, test results should be considered in conjunction with those of other diagnostic tests and clinical impression.

Chemotherapy can affect the test results even though we include internal controls to help avoid a false-positive finding secondary to undisclosed chemotherapy. Therefore, it is important to inform the laboratory if the patient is undergoing chemotherapy to assist in the interpretation of findings. If possible, blood should be drawn immediately before treatment. In some instances, breakage can be observed in other tissue types. If it is not possible to collect a blood specimen prior to treatment, a skin biopsy for Chromosome Analysis, Fanconi Anemia, Prenatal (test code 14259) can be considered; however, please note, the turnaround time for this test is considerably longer.

No. This assay was specifically designed to test for breakage induced by the DEB clastogen, which is specific to Fanconi anemia. Please call Quest Genomics Client Services at 866-GENE-INFO to discuss options for further testing with a genetic counselor.