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Chromosome DEB Assay for Fanconi anemia

Test code(s) 14598

Question 1. My patient has a family history of Fanconi anemia. Does a negative result guarantee that my patient is not a carrier 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.

Question 2. My patient's test result is negative but I am still concerned he/she has Fanconi anemia. What is the next step?

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.

Question 3. My patient's test result is indeterminate. What is the next step?

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.

Question 4. Is there a possibility of a false-positive or false-negative result associated with this test?

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.

Question 5. My patient was undergoing chemotherapy at the time of his/her blood draw. Could this have affected the test results?

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.

Question 6. Can this assay detect other chromosome breakage syndromes, including ataxia telangiectasia and Nijmegen breakage syndrome?

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.

This FAQ is provided for informational purposes only and is not intended as medical advice. A physician’s test selection and interpretation, diagnosis, and patient management decisions should be based on his/her education, clinical expertise, and assessment of the patient.
Document FAQS.70 Version: 0
Effective 10/15/2012 to present