Useful for the diagnosis of ataxia telangiectasia. Not appropriate for carrier testing or for diagnosing Fanconi anemia or similar breakage syndromes.
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
- Patient Preparation
- Green (sodium heparin).
- Specimen Preparation
- Transport 4 mL whole blood. (Min: 4 mL). Before sending specimen contact ARUP Referral Testing at (800) 242-2787, extension 5145 for direct submission instructions.
Specimens must be received within 48 hours of collection.
- Storage/Transport Temperature
- Room temperature. Also acceptable: Refrigerated.
- Unacceptable Conditions
- Clotted specimens.
- Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
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.
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.
|Component Test Code*||Component Chart Name||LOINC|
|2005750||Chromosome Analysis, Breakage, Ataxia|| |
* 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.
Performed at Stanford UMC Cytogenetics Lab