Chromosome Breakage for Fanconi Anemia
Test Mnemonic
CBREAK
CPT Codes
- 88249 - QTY (1)
- 88230 - QTY (1)
Performing Laboratory
Dana-Farber Cancer Institute
Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 5 mL | Whole blood | Sodium heparin (Green) | Ambient | Collect Monday or Wednesday only. Specimen MUST be received at Cleveland Clinic Laboratories by noon on Thursday. Patient information form, available through Client Services at 216-444-5755 or 800-628-6816, must accompany the specimen. |
Minimum Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 3 mL |
Stability
| Environmental Condition | Description |
|---|---|
| Ambient | 2 days |
| Refrigerated | Unacceptable |
| Frozen | Unacceptable |
Days Performed
Tue, Fri
Turnaround Time
11 - 12 days
Methodology
| Name | Description |
|---|---|
| Stress test induced by mitomycin C (MMC) or diepoxybutane (DEB) |
Reference Range
Special Info
The performing laboratory requests that specimens are collected on Monday, Wednesday or Thursday only because they have greater success with the assay if the specimen is no more than two days old when the culture is set up. If the sample must be collected on a Tuesday, please note that it will be greater than two days old when the culture is set up, meaning that if the assay were to fail it could possibly be due to the age of the specimen. Also a specimen with a very low white count could also cause the assay to fail. Physician's full name and contact number MUST be included. Include WBC value.
Clinical Info
Fanconi anemia is characterized by increased sensitivity to DNA damaging agents. The hallmark of Fanconi anemia is the inability to repair DNA damage induced by agents such as mitomycin C (MMC) or diepoxybutane (DEB). This feature can be analyzed by examining the chromosomes of cells treated with MMC or DEB. Fanconi cells exhibit a significant increase in the number of chromosomal crosslinks that can be quantitated by a highly trained cytogeneticist.