Useful for the diagnosis of ataxia telangiectasia. Not appropriate for carrier testing or for diagnosing Fanconi anemia or similar breakage syndromes.
- 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
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|
Performed at Stanford UMC Cytogenetics Lab