Chromosome Analysis - Breakage, Fanconi Anemia, Whole Blood
Also known as: BREAKAGE
Use
This test is useful for diagnosing Fanconi anemia, a genetic disorder characterized by bone marrow failure, developmental abnormalities, and increased cancer risk. The test involves culturing peripheral blood cells with clastogenic agents diepoxybutane (DEB) and mitomycin C (MMC) to induce chromosome breakage, which is evaluated to determine the presence of Fanconi anemia-related chromosome abnormalities. A routine Giemsa-banded chromosome analysis accompanies the breakage analysis to provide comprehensive diagnostic information.
Special Instructions
Not provided.
Limitations
The chromosome breakage study is subject to multiple variables, and the turnaround times provided are average estimates. The test may produce false negative results if the integrity of the specimen is compromised or if it is not received within the specified time frame post-collection. The analysis is sensitive to the culture conditions, and variations may occur due to differences in cell growth rates or reagent quality. Test interpretation requires expertise, as variability in MMC breakage values must be contextualized with concurrent normal control cultures.
Methodology
Cell-based / Cytometry
Biomarkers
No genes
Gene
LOINC Codes
- 57781-7 - Chrom Break Bld DEB
Result Turnaround Time
14-22 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
4 mL
Container
Dark green (sodium heparin)
Collection Instructions
Specimen must be collected in a dark green (sodium heparin) container and received at the performing laboratory within 48 hours of collection. Transport should be done at room temperature, but refrigeration is also acceptable.
Causes for Rejection
Clotted specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | 48 hours |
| Frozen | Unacceptable |
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