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Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel

CPT Code(s): 81324; if reflexed add 81260; 81325; 81403 (GJB1); 81404 x4 (EGR2, HSPB1, LITAF, PRNP); 81405 x6 (GDAP1, MPZ, NEFL, PRX, RAB7A, REEP1); 81406 x10 (ATL1, BSCL2, FIG4, GARS, HEXA, INF2, LMNA, MFN2, SETX, SH3TC2); 81479
Specimen Required: Patient Preparation:
Collect:Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Specimen Preparation:Transport 3 mL whole blood. (Min: 2 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:
  • Charcot-Marie-ToothCMTCMT1CMT1ACMT4CMTXHereditary Motor Neuropathy (dHMN)Hereditary NeuropathyHereditary Neuropathy with liability to Pressure Palsies (HNPP)Hereditary Sensory and Autonomic Neuropathy (HSAN)Hereditary Sensory Neuropathy (HSN)
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