Chromosome Analysis, Blood, Fanconi Mutagen Sensitivity Study
| Sunquest Code: | FANCCG | CoPath Code: | FANC |
| Epic Code: | LAB4755 | Epic Name: | Fanconi Anemia Study |
| Sunquest Code (non-Epic sites): | FANCCG | ||
| Synonyms: | DEB Test; Fanconi Anemia; Mutagen Stress Test | ||
| Methodology: | Chromosome breakage analysis. | ||
| Turnaround Time: | Results are reported within 7-14 days. | ||
| Special Instructions: | Test request form requires:
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Collection Instructions
| Specimen: | Blood |
| Optimal Volume: | 5 mL |
| Minimum\Peds Volume: | 3 mL |
| Container: | Green (sodium heparin, no gel) |
| Causes for Rejection: | Clotted or frozen specimen. Incorrect specimen collection tube (anticoagulant). |
Processing and Shipping
| Specimen Processing: | Store at room temperature. Do NOT refrigerate or freeze.
Specimens must be received in the Cytogenetics laboratory Mon-Fri by 5:30 pm. Weekends and holidays by 4:30 pm. Specimens received after the above cut off times will be processed the following day. |
| Shipping Instructions: | Ship at room temperature. |
| Stability: |
For optimal testing results the specimen must arrive within 24 hours.
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| Test Performed at or Referral Lab | Cytogenetics (UMMC-East Bank) |
Interpretive
| Use: | Useful for the differential diagnosis between idiopathic aplastic anemia and Fanconi anemia. After treatment with similar doses of bifunctional alkylating agents such as Diepoxybutane (DEB) or Mitomycin C (MMC), Fanconi anemia patients will typically show a greater than 50-fold increase in rates of chromosome breakage compared to concurrent controls or other aplastic anemia patients. |
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