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Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel
2012155
Ordering Recommendation

Recommended initial test to confirm a suspected diagnosis of CMT1 or CMT1A. PMP22 gene deletion/duplication analysis is performed first. If negative or inconclusive, testing reflexes to sequencing of 78 genes related to CMT and hereditary neuropathies.

Mnemonic
CMT REFLEX
Methodology
Multiplex Ligation-dependent Probe Amplification/Massively Parallel Sequencing
Performed
Varies
Reported
Within 2 weeks
If reflexed, add 56-70 days
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), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 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
Deletion/Duplication analysis is performed on all samples. If no large deletions or duplications are detected and/or results do not explain the clinical scenario, then sequencing of the Charcot-Marie-Tooth and Related Hereditary Neuropathy gene will be added. Additional charges apply.  If reflexed, an additional 8-10 weeks is required to complete testing.

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)
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
Components
Component Test Code*Component Chart NameLOINC
2012156Charcot-Marie-Tooth Reflex Specimen31208-2
2012158Charcot-Marie-Tooth (CMT) Reflex Interp35464-7
* 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
  • Charcot-Marie-Tooth
  • CMT
  • CMT1
  • CMT1A
  • CMT4
  • CMTX
  • Hereditary Motor Neuropathy (dHMN)
  • Hereditary Neuropathy
  • Hereditary Neuropathy with liability to Pressure Palsies (HNPP)
  • Hereditary Sensory and Autonomic Neuropathy (HSAN)
  • Hereditary Sensory Neuropathy (HSN)