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Chromosome Analysis - Breakage, Fanconi Anemia, Whole Blood
0097688
Ordering Recommendation

Useful for the diagnosis of Fanconi anemia.

Mnemonic
BREAKAGE
Methodology
Giemsa Band
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.
ARUP Consult®
Disease Topics
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). 
Storage/Transport Temperature
Send Monday-Thursday only. 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


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. After specimen receipt, results are generally available in an average of 4 weeks. 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.
Components
Component Test Code*Component Chart NameLOINC
0097688Chromosome Analysis, Breakage, Fanconi57781-7
* 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

Performed at Stanford UMC Cytogenetics Lab