ARUP's Laboratory Test Directory

Chromosome Analysis - Breakage, Ataxia Telangiectasia, Whole Blood : 2005749
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Time Sensitive
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Patient History and Technical Information


Mnemonic: BREAKAGEAT

Ordering Recommendation: Useful for the diagnosis of ataxia telangiectasia. Not appropriate for carrier testing or for diagnosing Fanconi anemia or similar breakage syndromes.
Methodology: Giemsa Band
Performed: Sun-Sat
Reported: Varies
Specimen Required: Patient Prep: Specimens must be collected and shipped Monday-Thursday only and not the day before a holiday.

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.

Stability (collection to initiation of testing): Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Reference Interval:
By report
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