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Retinitis Pigmentosa/Leber Congenital Amaurosis Sequencing, 53 Genes

CPT Code(s): 81434
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:
  • ABCA4, AIPL1 ,BEST1, C2ORF71, CA4, CDHR1, CEP290, CERKL, CNGA1, CNGB1, CRB1, CRX, DHDDS, EYS, FSCN2cone-rod dystrophyGUCA1B, GUCY2D, IDH3B, IMPDH1, KLHL7, LCA5, LRAT, MERTK, NR2E3, NRL, PDE6A, PDE6B, PRCD, PROM1Leber congenital amaurosis (LCA)PRPF3, PRPF31, PRPF8, RD3, RDH12, RDS, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1Retinitis pigmentosaSAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2AStargardt disease
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