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Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing

CPT Code(s): 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) or yellow (ACD Solution A or B).
Specimen Preparation:Transport 3 mL whole blood. (Min: 1 mL)
Storage/Transport Temperature:
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:
  • AARS, AIFM1, ARHGEF10, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MTMR2, MYH14, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN9A, SETX, SH3TC2, SLC12A6, SLC5A7, SOX10, SPTLC1, SPTLC2, TDP1, TFG, TRIM2, TRPV4, WNK1, YARSCharcot-Marie-ToothCMTCMT1CMT1ACMT4CMTXHereditary Motor Neuropathy (dHMN)Hereditary NeuropathyHereditary Sensory and Autonomic Neuropathy (HSAN)Hereditary Sensory Neuropathy (HSN)
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