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Diamond-Blackfan Anemia (RPS19) Sequencing

CPT Code(s): 81479
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.
Stability:Ambient: 1 week; Refrigerated: 1 week; Frozen: Unacceptable
New York DOH Approval Status: This test is New York DOH approved.
Aliases:
  • Aase Syndrome
  • Aase-Smith Syndrome II
  • Blackfan-Diamond Anemia
  • Pure hereditary red cell aplasia.
  • RPS19 Gene Sequencing
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