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Charcot-Marie-Tooth (CMT) - Comprehensive Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
AARS1 81479,81479
ABHD12 81479,81479
AIFM1 81479,81479
ARHGEF10 81479,81479
ATL1 81406,81479
ATL3 81479,81479
ATP1A1 81479,81479
ATP7A 81479,81479
BAG3 81479,81479
BSCL2 81406,81479
COA7 81479,81479
DCTN1 81479,81479
DHTKD1 81479,81479
DNAJB2 81479,81479
DNM2 81479,81479
DNMT1 81479,81479
DST 81479,81479
DYNC1H1 81479,81479
EGR2 81404,81479
FBLN5 81479,81479
FBXO38 81479,81479
FGD4 81479,81479
FIG4 81406,81479
GAN 81479,81479
GARS1 81406,81479
GDAP1 81405,81479
GJB1 81403,81479
GM2A 81479,81479
GNB4 81479,81479
HARS1 81479,81479
HEXA 81479,81479
HEXB 81479,81479
HINT1 81479,81479
HSPB1 81404,81479
HSPB8 81479,81479
IGHMBP2 81479,81479
INF2 81406,81479
KIF1A 81479,81479
KIF1B 81479,81479
KIF5A 81479,81479
LITAF 81404,81479
LMNA 81406,81479
LRSAM1 81479,81479
MARS1 81479,81479
MCM3AP 81479,81479
MFN2 81406,81479
MME 81479,81479
MORC2 81479,81479
MPZ 81405,81479
MTMR2 81479,81479
NDRG1 81479,81479
NEFH 81479,81479
NEFL 81405,81479
NGF 81479,81479
NTRK1 81479,81479
PDK3 81479,81479
PLEKHG5 81479,81479
PMP2 81479,81479
PMP22 81325,81324
PRPS1 81479,81479
PRX 81405,81479
RAB7A 81405,81479
REEP1 81405,81479
SBF1 81479,81479
SBF2 81479,81479
SCN11A 81479,81479
SEPTIN9 81479,81479
SETX 81406,81479
SH3TC2 81406,81479
SLC12A6 81479,81479
SLC25A46 81479,81479
SLC5A7 81479,81479
SPG11 81407,81479
SPTLC1 81479,81479
SPTLC2 81479,81479
SURF1 81405,81479
TFG 81479,81479
TRIM2 81479,81479
TRPV4 81479,81479
TTR 81404,81479
VCP 81479,81479
WNK1 81479,81479
YARS1 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10419Genes x (83)81479 81324(x1), 81325(x1), 81403(x1), 81404(x4), 81405(x7), 81406(x9), 81407(x1), 81479(x142) $990 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Charcot Marie Tooth disease (CMT), also known as hereditary motor and sensory neuropathy (HMSN) is a large group of inherited disorders of the peripheral nerves. The progressive degeneration of motor nerves results in weakness and atrophy of the distal muscles. The degeneration of sensory nerves leads to decreased sensation, tingling and numbness in the legs, feet, arms and hands and neuropathic pain. The age of onset varies from childhood to mid adulthood. Symptoms usually begin with weakness and atrophy in the muscles of the legs and feet. As the disease progresses, weakness and atrophy of the muscles of the arms and hands may occur. CMT is heterogeneous in regards to symptoms, severity and progression rate. Although the disease may lead to disability and respiratory difficulty, life expectancy is usually unaffected. Most common symptoms include foot deformity, loss of balance, hammertoes, foot drop, frequent tripping and falls, and reduced manual dexterity (Bird 2015). Diagnosis is based on clinical features, family history, neurological examination, and electromyography (EMG) and nerve conduction velocity (NCV) findings (Rossor 2013; Bird 2015). CMT affects approximately 1 in 3,300 people (Bird 2015; Saporta 2011).

This comprehensive panel includes genes that are causative for the different types of CMT. Demyelinating forms of CMT primarily affect the myelin sheath of the peripheral nerve and are characterized by slow nerve conduction velocities (NCV) of less than 38 m/s in upper limbs. Axonal forms of CMT primarily affect the axons of the peripheral nerves and are characterized by normal or almost normal NCV of greater than 38 m/s. Intermediate NCV of 25-45 m/s can be difficult to classify as axonal or demyelinating.

Approximately 70% of CMT1 is caused by the recurrent PMP22 duplication (Bird 2015; Li et al. 2013; van Paassen et al. 2014). CMT1A is most commonly caused by a 1.5 Mb duplication of chromosome 17p11.2 which includes the PMP22 gene. PMP22 deletion/duplication testing via aCGH can be ordered through test code #600.


Charcot-Marie-Tooth can be inherited in an autosomal dominant, autosomal recessive or an X-linked manner. The MPZ, LITAF, NEFL, PMP22, FBLN5, MFN2, YARS1/YARS, RAB7, TRPV4, GARS1/GARS, HSPB1, HSPB8, INF2, GNB4, AARS1/AARS, DYNC1H1, LRSAM1, DHTKD1, MARS1/MARS, KIF5A genes are involved in autosomal dominant CMT. Autosomal recessive forms of CMT involve the LMNA, MED25, HINT1, TRIM2, MTMR2, SBF2, SBF1, SH3TC2, PRX, FGD4, FIG4, NDRG1, KARS1/KARS, CTDP1, PLEKHG5, IGHMBP2 and COX6A1 genes. Pathogenic variants in the EGR2, GDAP1, and DNM2 genes can exhibit both dominant and recessive inheritance. In cases of Dejerine-Sottas syndrome, the PMP22, MPZ, EGR2, and PRX genes can exhibit both dominant and recessive inheritance as well. Pathogenic variants in the GJB1, AIFM1, PRPS1, and PDK3 genes are inherited in an X-linked manner. See individual gene test descriptions for information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

A genetic etiology can be identified in approximately 50-70% of individuals with CMT (Saporta et al. 2011; Rossor et al. 2013). Specifically, a molecular diagnosis can be identified in approximately 80-85% of individuals with demyelinating neuropathy (CMT1), and a molecular diagnosis can be identified in approximately 25-35% of individuals with axonal neuropathy (CMT2) (Bird 2015; Bird 2015; Rossor et al. 2013). The sensitivity of this panel will vary based on the clinical phenotype of the patient.

It is estimated that ~70% of all Charcot Marie Tooth Type 1 (CMT1) is due to the PMP22 1.5 Mb duplication, while only around 5% of CMT1 cases are due to point mutations (Bird 2015). The IGHMBP2, MPZ, EGR2, MTMR2, SPF2, PRX, FIG4, NDRG1 are other genes in this panel with large copy number variants reported; however, clinical sensitivity has not been determined with a large cohort study (Human Gene Mutation Database).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.8% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Please note that for technical reasons, exon 8 of the INF2 gene is not currently included in this panel. Thus far, only exons 2 to 6, especially exons 2 to 4 that encode the diaphanous inhibitory domain (DID), have been reported to harbor pathogenic INF2 variants (Boyer et al. 2011; Barua et al. 2013; Human Gene Mutation Database).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Any patient with clinical symptoms consistent with a peripheral neuropathy.


Name Inheritance OMIM ID
Amyloidogenic Transthyretin Amyloidosis AD 105210
Amyotrophic lateral sclerosis 27, juvenile AD 620285
Amyotrophic lateral sclerosis 5, juvenile AR 602099
Amyotrophic Lateral Sclerosis Type 1 AR 105400
Amyotrophic Lateral Sclerosis Type 14 AD 613954
Amyotrophic Lateral Sclerosis Type 4 AD 602433
Andermann Syndrome AR 218000
Cardiomyopathy, Dilated, 1Hh AD 613881
Carpal Tunnel Syndrome AD 115430
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant AD 604121
Charcot-Marie-Tooth Disease Dominant Intermediate 3 AD 607791
Charcot-Marie-Tooth Disease Type 2B AR 600882
Charcot-Marie-Tooth Disease Type 2B1 AR 605588
Charcot-Marie-Tooth Disease Type 2B2 AR 605589
Charcot-Marie-Tooth Disease Type 2C AR 606071
Charcot-Marie-Tooth Disease Type 2D AR 601472
Charcot-Marie-Tooth Disease Type 2E AR 607684
Charcot-Marie-Tooth Disease Type 2F AR 606595
Charcot-Marie-Tooth Disease Type 2I AR 607677
Charcot-Marie-Tooth Disease Type 2J AR 607736
Charcot-Marie-Tooth Disease Type 2K AR 607831
Charcot-Marie-Tooth disease, axonal, type 2CC AD 616924
Charcot-Marie-Tooth disease, axonal, type 2DD AD 618036
Charcot-Marie-Tooth disease, axonal, type 2II AD 620068
Charcot-Marie-Tooth Disease, Axonal, Type 2O AR 614228
Charcot-Marie-Tooth disease, axonal, type 2T AR 617017
Charcot-Marie-Tooth disease, axonal, type 2W AD 616625
Charcot-Marie-Tooth disease, axonal, type 2X AR 616668
Charcot-Marie-Tooth disease, axonal, type 2Z AD 616688
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive AR 607706
Charcot-Marie-Tooth disease, demyelinating, type 1G AD 618279
Charcot-Marie-Tooth Disease, Dominant Intermediate B AD 606482
Charcot-Marie-Tooth Disease, Dominant Intermediate C AD 608323
Charcot-Marie-Tooth Disease, Dominant Intermediate E AD 614455
Charcot-Marie-Tooth Disease, Dominant Intermediate F AD 615185
Charcot-Marie-Tooth Disease, Recessive Intermediate A AR 608340
Charcot-Marie-Tooth Disease, Recessive Intermediate C AR 615376
Charcot-Marie-Tooth Disease, Type 1A AD 118220
Charcot-Marie-Tooth Disease, Type 1D AD 607678
Charcot-Marie-Tooth Disease, Type 1E AD 118300
Charcot-Marie-Tooth Disease, Type 1F AD 607734
Charcot-Marie-Tooth Disease, Type 2A1 AD 118210
Charcot-Marie-Tooth Disease, Type 2A2 AR 609260
Charcot-Marie-Tooth Disease, Type 2L AR 608673
Charcot-Marie-Tooth Disease, Type 2N AR 613287
Charcot-Marie-Tooth Disease, Type 2Q AD 615025
Charcot-Marie-Tooth Disease, Type 2R XL 615490
Charcot-Marie-Tooth Disease, Type 2S AR 616155
Charcot-Marie-Tooth Disease, Type 2U AD 616280
Charcot-Marie-Tooth Disease, Type 2Y AD 616687
Charcot-Marie-Tooth Disease, Type 3 AR, AD 145900
Charcot-Marie-Tooth Disease, Type 4A AR 214400
Charcot-Marie-Tooth Disease, Type 4B1 AR 601382
Charcot-Marie-Tooth Disease, Type 4B2 AR 604563
Charcot-Marie-Tooth Disease, Type 4B3 AR 615284
Charcot-Marie-Tooth Disease, Type 4C AR 601596
Charcot-Marie-Tooth Disease, Type 4D AR 601455
Charcot-Marie-Tooth Disease, Type 4E AR 605253
Charcot-Marie-Tooth Disease, Type 4F AR 614895
Charcot-Marie-Tooth Disease, Type 4H AR 609311
Charcot-Marie-Tooth Disease, Type 4J AR 611228
Charcot-Marie-Tooth Disease, Type 4K AR 616684
Charcot-Marie-Tooth Disease, Type Ib AD 118200
Charcot-Marie-Tooth Disease, Type IC AD 601098
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 XL 302800
Charcot-Marie-Tooth Disease, X-linked Dominant, 6 AR 300905
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 XL 311070
Charcot-Marie-Toothe Disease, Type 2P AD,AR 614436
Congenital Generalized Lipodystrophy Type 2 AR 269700
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy AD 619090
Dystransthyretinemic Euthyroidal Hyperthyroxinemia AD 145680
Encephalopathy, progressive, with or without lipodystrophy AR 615924
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 AR 615425
Episodic Pain Syndrome, Familial, 3 AD 615552
Giant Axonal Neuropathy AR 256850
Hereditary Insensitivity To Pain With Anhidrosis AR 256800
Hereditary Neuralgic Amyotrophy AD 162100
Hypomagnesemia, seizures, and mental retardation 2 AD 618314
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia AD 167320
Menkes Kinky-Hair Syndrome XL 309400
Mental Retardation, Autosomal Dominant 9 AD 614255
Mitochondrial Complex IV Deficiency AR 220110
Myasthenic syndrome, congenital, 20, presynaptic AR 617143
Myofibrillar Myopathy, BAG3-Related AD 612954
Neuroblastoma 1 AD 256700
Neuronopathy, Distal Hereditary Motor, Type VIIB AD 607641
Neuronopathy, distal hereditary motor, autosomal recessive 6 AR 620011
Neuronopathy, Distal Hereditary Motor, Type IID AD 615575
Neuronopathy, Distal Hereditary Motor, Type VB AD 614751
Neuronopathy, Distal Hereditary Motor, Type VIIA AD 158580
Neuropathy, distal hereditary motor, type VC AD 619112
Neuropathy, Hereditary Motor and Sensory, Okinawa Type AD 604484
Neuropathy, Hereditary Motor and Sensory, Type VIA AD 601152
Neuropathy, Hereditary Motor and Sensory, Type VIB AR 616505
Neuropathy, Hereditary Sensory And Autonomic, Type 1A AD 162400
Neuropathy, Hereditary Sensory And Autonomic, Type IC AD 613640
Neuropathy, Hereditary Sensory And Autonomic, Type IIA AR 201300
Neuropathy, Hereditary Sensory And Autonomic, Type V AR 608654
Neuropathy, Hereditary Sensory and Autonomic, Type VI AR 614653
Neuropathy, Hereditary Sensory and Autonomic, Type VII AD 615548
Neuropathy, Hereditary Sensory, Type ID AD 613708
Neuropathy, Hereditary Sensory, Type IE AD 614116
Neuropathy, Hereditary Sensory, Type IF AD 615632
Neuropathy, Hereditary Sensory, Type IIC AR 614213
Occipital Horn Syndrome XL 304150
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development AR 618124
Perry Syndrome AD 168605
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract AR 612674
Pontocerebellar hypoplasia, type 1E AR 619303
Pseudohypoaldosteronism, type IIC AD 614492
Sandhoff Disease AR 268800
Slowed Nerve Conduction Velocity, Autosomal Dominant AD 608236
Spastic Paraplegia 11 AR 604360
Spastic Paraplegia 17 AD 270685
Spastic Paraplegia 3 AD 182600
Spastic Paraplegia 30 AR 610357
Spastic Paraplegia 31 AD 610250
Spastic Paraplegia 57 AR 615658
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 AR 614881
Spinal Muscular Atrophy, Distal, X-Linked 3 XL 300489
Spinocerebellar ataxia 43 AD 617018
Spinocerebellar Ataxia Autosomal Recessive 1 AR 606002
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 AR 618387
Tay-Sachs Disease AR 272800
Tay-Sachs disease AB Variant AR 272750
Usher Syndrome Type 3B AR 614504

Related Test



  • Barua M. et al. 2013. Kidney International. 83: 316-22. PubMed ID: 23014460
  • Bird and Bird. 2015. PubMed ID: 20301532
  • Bird T.D. 2015. Charcot-Marie-Tooth Neuropathy Type 1. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301384
  • Boyer O. et al. 2011. Journal of the American Society of Nephrology : Jasn. 22: 239-45. PubMed ID: 21258034
  • Human Gene Mutation Database (Bio-base).
  • Li et al. 2013. PubMed ID: 23224996
  • Rossor et al. 2013. PubMed ID: 24018473
  • Saporta et al. 2011. PubMed ID: 21280073
  • van Paassen B.W. et al. 2014. Orphanet Journal of Rare Diseases. 9: 38. PubMed ID: 24646194
  • Zhang F. et al. 2010. American Journal of Human Genetics. 86: 892-903. PubMed ID: 20493460


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
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  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
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For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

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PGxome (Exome) Sequencing Panel

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