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Chromosome DEB Assay for Fanconi Anemia

Test code: 14598

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: Fanconi Anemia DNA Mutation Analysis (test code 90897).

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, DEB Assay Fanconi Anemia, Prenatal (test code 17455).

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 skin biopsy is not available, a second peripheral blood sample could be submitted.

Please call Quest Genomics Client Services at 866-GENE-INFO (866-463-3463) to coordinate these studies with a genomic science specialist. 

Although the DEB clastogen assay is considered highly sensitive, very rare false-negative and false-positive results are possible. Therefore, test results should be considered in conjunction with results of other diagnostic tests and clinical assessment.

Chemotherapy can affect the test results even though Quest includes internal controls to help avoid a false-positive finding caused by 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 before treatment, a skin biopsy for Chromosome DEB Assay, Fanconi Anemia, Prenatal (test code17455) can be considered; however, please note that 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 (866-463-3463) to discuss options for further testing with a genomic science specialist. 

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 the physician’s education, clinical expertise, and assessment of the patient.

 

Document FAQS.70 Version: 1

Version 1: Effective 11/12/2025 to present

Version 0: Effective 10/15/2012 to 11/12/2025

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