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
- 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).
- Storage/Transport Temperature
- Send Monday-Thursday only. 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
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