Chromosome Analysis, DEB Assay for Fanconi Anemia, Prenatal
Use
This assay is used to diagnose Fanconi anemia in individuals suspected of having the disorder by evaluating chromosome breakage induced by the diepoxybutane (DEB) clastogen. It is the standard cytogenetic method to detect Fanconi anemia, though rare false-negative and false-positive results may occur. If peripheral blood is inconclusive or negative but clinical suspicion remains, alternative tissues such as skin fibroblasts may be considered.
Special Instructions
If the patient is undergoing chemotherapy, results may be affected despite internal controls; drawing blood immediately prior to treatment is preferable. If peripheral blood testing is inconclusive, skin biopsy fibroblast cultures may be recommended, though turnaround time will be considerably longer. Clinicians are advised to coordinate with Quest Genomics Client Services for support.
Limitations
Very rare false-positive and false-negative results are possible, and results must be interpreted in conjunction with clinical assessment. Chemotherapy exposure can affect test performance. Negative findings in peripheral blood may miss somatic mosaicism; alternate tissue testing may be required. Cultured living cells are required; sample quality can affect testing.
Methodology
Chromosomal / Cytogenetics
Biomarkers
Result Turnaround Time
25 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided