Ordering Recommendation

Useful for the diagnosis of Fanconi anemia.

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation

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.


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


Cell Culture/Stain




12-17 days

Reference Interval

Interpretive Data

Compliance Category

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.

Hotline History


CPT Codes

88230; 88249


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.


Chromosome Analysis - Breakage, Fanconi Anemia, Whole Blood

Stanford - Hillview