Diamond-Blackfan Anemia (RPL11) Sequencing
2006236
Ordering Recommendation
Refer to Additional Technical Information document.
Mnemonic
RPL11 FGS
Methodology
Sequencing
Performed
Varies
Reported
6-8 weeks  
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
  
Collect
Lavender (EDTA). Also acceptable: Pink (K2EDTA)  
Specimen Preparation
Transport 5 mL whole blood. (Min: 2 mL)  
Storage/Transport Temperature
Room temperature. Also acceptable: Refrigerated. Protect from extreme temperatures.  
Unacceptable Conditions
Frozen specimens.  
Remarks
Clinical indication or reason for testing is required.  
Stability
Ambient: 1 week; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report  
Interpretive Data
 
Note
 
CPT Code(s)
81479
Components
Component Test Code*Component Chart NameLOINC
2006237Diamond-Blackfan Anemia (RPL11) Seq 
2010873Ordering Physician Name67102-4
2010874Ordering Physician Phone Number67714-6
2010882EER Diamond-Blackfan Anemia (RPL11) Seq11526-1
* 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
  • Aase Syndrome
  • Aase-Smith Syndrome II
  • Blackfan-Diamond Anemia
  • Pure hereditary red cell aplasia
  • RPL11 Gene Sequencing

Performed at GeneDx