Chromosome, DEB Assay for Fanconi Anemia
Use
The DEB (diepoxybutane) chromosome breakage assay is designed to diagnose Fanconi anemia in patients with suspected disease; it detects DEB-induced chromosomal breakage characteristic of Fanconi anemia. A negative result does not rule out carrier status. Consider alternative specimens (e.g., skin fibroblasts) if clinical suspicion remains high or if results are indeterminate. Chemotherapy may affect breakage results; internal controls are used to minimize false positives. Results should be interpreted in conjunction with clinical findings. ([questdiagnostics.com](https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/faq/faq70?utm_source=openai))
Special Instructions
Not provided.
Limitations
Living cells are required for analysis; sample quality may affect results. Rare false-positive or false-negative results may occur. A negative assay does not detect carriers. The test was specifically designed for DEB-induced breakage and does not detect other breakage syndromes (e.g., ataxia telangiectasia). Mosaicism or small structural abnormalities cannot be excluded with a normal result. ([questdiagnostics.com](https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/faq/faq70?utm_source=openai))
Methodology
Other
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
10 mL whole blood (2–3 mL for infants)
Minimum Volume
2–3 mL (infants)
Container
Dark Green (Sodium Heparin) tube
Collection Instructions
Collect whole blood; clinical history and reason for referral required
Storage Instructions
Ambient transport; refrigerate for transport; transport on ice if offsite
Other tests from different labs that may be relevant