Chromosome, DEB Assay for Fanconi Anemia

Casandra

Casandra Test Code QD32132Version 1 (DRAFT)

Performing Lab

Lab Quest DiagnosticsLab Test ID 14598CPT Code 88230

Chromosome, DEB Assay for Fanconi Anemia

Clinical Use

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

Clinical history and reason for referral are required. If mitotically active cells are not obtained, the test may be cancelled and replaced with Chromosome Analysis, Blood, No Growth (test code 13045). Insurance authorization is required prior to outpatient draws. Inpatients may have differing procedures. ([rchsd.org](https://www.rchsd.org/lab-test/chromosomes-deb-assay-for-fanconi-anemia-14598/?utm_source=openai))

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))

Test Details