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

2012151
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Patient History for Charcot-Marie-Tooth and HN Testing

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Additional Technical Information
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 Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

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

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Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
11/12/2018
X
X
X
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