Chromosome Analysis - Breakage, Ataxia Telangiectasia, Whole Blood
2005749
Ordering Recommendation
Useful for the diagnosis of ataxia telangiectasia. Not appropriate for carrier testing or for diagnosing Fanconi anemia or similar breakage syndromes.
Mnemonic
BREAKAGEAT
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.
Time SensitiveTime Sensitive

Specimen Required
Patient Preparation
Specimens must be collected and shipped Monday-Wednesday only and not the day before a holiday. For Thursday and Friday shipping options please contact ARUP Referral Testing at (800)242-2787, extension 5145.  
Collect
Green (sodium heparin).  
Specimen Preparation
Transport 10 mL whole blood. (Min: 5 mL) Specimens must be received within 48 hours to ensure adequate culture of living cells.  
Storage/Transport Temperature
Room temperature.  
Unacceptable Conditions
Frozen specimens. Clotted specimens.  
Remarks
  
Stability
Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable  
Reference Interval
By report  
Interpretive Data
 
Note
Chromosome breakage study performed by stimulating cells with phytohemagglutinin (PHA), and staining to identify the chromosome banding pattern. These studies involve culturing of living cells; therefore, turnaround times given represent average times and are subject to multiple variables. Hard copy reports are generated following completion of analysis. After specimen receipt, results are generally available in an average of four weeks.

This test must be ordered using a Cytogenetic Test Request Form (#43097) or through your ARUP interface. A processing fee will be charged if the client cancels this procedure 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.
CPT Code(s)
88230; 88248
Components
Component Test Code*Component Chart Name
2005750Chromosome Analysis, Breakage, AT, WB
* 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