Chromosome Analysis - Breakage, Fanconi Anemia, Whole Blood
Useful for the diagnosis of Fanconi anemia.
New York DOH Approval Status
Green (sodium heparin).
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.
Specimen must be sent directly to performing laboratory. Room temperature. Also acceptable: Refrigerated.
Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
Performed by non-ARUP Laboratory
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.
|Component Test Code*||Component Chart Name||LOINC|
|0097688||Chromosome Analysis, Breakage, Fanconi||57781-7|
Stanford - Hillview