Chromosome breakage analysis is performed when there is a clinical suspicion of Fanconi anemia (Fanconi pancytopenia). Cultured lymphocytes are treated with the DNA cross-linking agent, diepoxybutane (DEB), utilizing the technique of Auerbach et al. (Pediatrics 1984; 67:128-134). Affected individuals exhibit very high levels of chromosome breakage with this treatment while unaffected individuals have little or no increase over background breakage.
Please Note: This test is not appropriate for other chromosome fragility syndromes. In addition, it is important to note that this test has been validated for blood specimens, not marrow.
CPT Codes:
88230(2), 88248(1), 88249(1), 88291(1)
Specimen Requirements:
Please Note: High concentrations of heparin are toxic. Do not collect small volumes into large vacutainers or add additional heparin to specimens.
Blood:
- Adult: 5-10 ml whole blood in sodium heparin (green-top) tube.
- Child: 2-5 ml whole blood (less for newborn) in sodium heparin (green-top) tube.
Turnaround Time:
5-10 days (routine), average 7 days
Client Services:
Reproductive/Genetics
800-848-4436
Specimen Services/Pickup:
877-246-1226