Ordering Recommendation

Useful for the diagnosis of Fanconi anemia.

Mnemonic
BREAKAGE
Methodology

Stimulated Cell Culture with Clastogenic Stress/Unbanded Breakage Analysis

Performed

Varies

Reported

12-17 days

New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect

Green (sodium heparin).

Specimen Preparation

Specimen must be received at performing laboratory within 48 hours of collection. Do not send to ARUP Laboratories. For direct submission instructions,
please contact ARUP Referral Testing at (800) 242-2787, ext. 5145. Transport 4 mL whole blood. (Min: 4 mL).
Test is not performed at ARUP; separate specimens must be submitted when multiple tests are ordered.

Storage/Transport Temperature

Specimen must be sent directly to performing laboratory. Room temperature. Also acceptable: Refrigerated.

Unacceptable Conditions

Clotted specimens.

Remarks
Stability

Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable

Reference Interval
Interpretive Data



Compliance Category

Performed by non-ARUP Laboratory

Note

Chromosome breakage study performed by culturing cells in both Mitomycin-C (MMC) and Diepoxybutane (DEB). These studies involve culturing of living cells; therefore, turnaround times given represent average times, which are subject to multiple variables. Hard copy reports are generated following completion of case. A routine Giemsa Banded Chromosome Analysis is included with breakage analysis.

A processing fee will be charged if this procedure is canceled at the client's request after the test has been set up, or if the specimen integrity is inadequate to allow culture growth. The fee will vary based on specimen type.

Hotline History
N/A
CPT Codes

88230; 88249

Components
Component Test Code* Component Chart Name LOINC
0097688 Chromosome Analysis, Breakage, Fanconi 57781-7
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
Chromosome Analysis - Breakage, Fanconi Anemia, Whole Blood

Stanford UMC Cytogenetics Lab