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Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing
2012151
Ordering Recommendation

Order to confirm a suspected diagnosis of a hereditary neuropathy or CMT subtype other than CMT1/CMT1A. To confirm a diagnosis of CMT1/CMT1A, PMP22 gene deletion/duplication studies should be performed first.

Mnemonic
CMT SEQ
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
8-10 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
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
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Refer to report.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
78 Genes sequenced: 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, YARS.
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
Components
Component Test Code*Component Chart NameLOINC
2012152CMT Sequencing Specimen31208-2
2012153CMT Sequencing Interpretation35464-7
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • AARS, AIFM1, ARHGEF10, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DY
  • Charcot-Marie-Tooth
  • CMT
  • CMT1
  • CMT1A
  • CMT4
  • CMTX
  • Hereditary Motor Neuropathy (dHMN)
  • Hereditary Neuropathy
  • Hereditary Sensory and Autonomic Neuropathy (HSAN)
  • Hereditary Sensory Neuropathy (HSN)