Chromosome Analysis - Breakage, Fanconi Anemia, Whole Blood

Also known as: BREAKAGE

Clinical Use

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.

Test Details

Methodology

Cell-based / Cytometry

Biomarkers

No genes

Gene

Chromosome Breakage

Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

LOINC Codes

Order Codes

57781-7 - Chrom Break Bld DEB

Result Turnaround Time

14-22 days

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.