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Bone Marrow Failure Sequencing, 35 Genes

CPT Code(s): 81216; 81242; 81405 (RPS19); 81406 (PALB2); 81479
Specimen Required: Patient Preparation:
Collect:Lavender (EDTA) or yellow (ACD Solution A or B). Peripheral blood required.
Specimen Preparation:Transport 3 mL whole blood. (Min: 1 mL)
Storage/Transport Temperature:Refrigerated.
Stability:Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York DOH Approval Status: Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Aliases:
  • acute myelogenous leukemia
  • Aplastic anemia
  • BRCA2, BRIP1, CTC1, DKC1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FNCL, FANCM, GATA1, NHP2, NOP10, PALB2, RPL5, RPL11, RPL26, RPL35A, RPS7, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, SBDS, SLX4, TERC, TERT, TINF2, WRAP53
  • Diamond-Blackfan anemia
  • Dyskeratosis Congenita
  • Fanconi Anemia
  • myelodysplastic syndrome
  • Shwachman-Diamond syndrome
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