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

2012151
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Example Reports
Negative
Positive

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Additional Technical Information

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Patient History for Charcot-Marie-Tooth and HN Testing
Ordering Recommendation

Recommended test for hereditary neuropathies 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

3-6 weeks

New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
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 Category

Laboratory Developed Test (LDT)

Note

Genes tested: AARS, AIFM1, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1*, DYNC1H1, EGR2, ELP1, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MORC2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SCN9A, SETX*, SH3TC2, SLC12A6, SLC5A7, SPTLC1*, SPTLC2, TDP1, TFG, TRIM2, TRPV4, TTR, WNK1, YARS

* One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.

Hotline History
N/A
CPT Codes

81448

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Components
Component Test Code* Component Chart Name LOINC
2012152 CMT Sequencing Specimen 31208-2
2012153 CMT Sequencing Interpretation 35464-7
* 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
  • CMT2
  • CMT4
  • CMTX
  • Hereditary Motor Neuropathy (dHMN)
  • Hereditary Neuropathy
  • Hereditary Sensory and Autonomic Neuropathy (HSAN)
  • Hereditary Sensory Neuropathy (HSN)
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing