Charcot Marie Tooth (CMT)

Collectively the Charcot-Marie-Tooth (CMT) neuropathies are the most common cause of hereditary neuropathy with a prevalence of approximately 1 in 2500. Charcot-Marie-Tooth neuropathies are also known as hereditary motor and sensory neuropathies (HMSN) because they are characterized by predominately motor and sensory symptoms. The “classic” CMT presentation is characterized by progressive distal muscle weakness with the feet and legs being most severely affected, paresthesia and/or loss of sensation, a “drop foot” gait, depressed deep tendon reflexes, hammer toes, and pes cavus. Most types of CMT exhibit autosomal dominant inheritance; however, autosomal recessive and X-linked forms are well described in the literature.

Tests Available

Forms and Documents

Test Details

AARS, ATL1, ATP7A, BSCL2, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, HINT1, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KIF1A, KIF5A, LITAF, LMNA, LRSAM1, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1 (C2ORF23), SBF2, SCN9A, SH3TC2, SLC12A6, SLC52A2, SPTLC1, SPTLC2, TFG, TRPV4, TTR, WNK1, YARS
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

737
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81325x1, 81404x1, 81405x4, 81406x4
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Rotthier et al. (2012). Nat Rev Neurol 8: 73-85.
  2. McLaughlin et al. (2012) Hum Mutat 33(1): 244-253.
  3. Claeys et al. (2009) Brain 132:1741-1752.
  4. Harms et al. (2012) Neurol 78:1741-1720.
  5. Poirier et al. (2013) Nat Genet 45(6): 639.
  6. Bird (Updated March 2015). CharcotMarie-Tooth Neuropathy Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org
  7. Bird (Updated March 2015). CharcotMarie-Tooth Neuropathy Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
  8. Saporta et al. (2011) Ann Neurol 69(1): 22-33
  9. Siskind et al. (2013) J Genet Counsel 22: 422-436.
  10. Capponi et al. (2011) J Peripheral Nervous System 16: 287-294.
  11. Irobi et al. (2004) Hum Molec Genet 13(2): R195-R202.
  12. Bird (Updated April 2015). Charcot-Marie-Tooth Neuropathy Type 2. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org..
  13. Weterman et al. (2012) Hum Molec Genet 21(2): 358-370.
  14. Guernsey et al. (2010) PLoS Genetics 6(8): 1-7.
  15. Reilly et al. (2011) J Periph Nervous System 16: 1-14.
  16. Baets et al. (2011) Brain 134: 2664-2676.
  17. Vallat et al. (2013). Curr Opin Neurol 26(5): 473-480.
  18. Nelis et al. (2006) Eur J Hum Genet 4(1): 25-33
  19. Kim and Kim (Updated June 2013). Charcot-Marie-Tooth Neuropathy X Type 5 In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
  20. Davidson et al. (2012) J Neurol 259: 1673-1685.
  21. Azzedine, Bontoux, and LeGuern (Updated July 2010). Charcot-Marie-Tooth Neuropathy Type 4C. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http:/
  22. Moizard et al. (2010) Clin Genet 79(3): 243-253.
  23. Ito (Updated June 2012). BSCL2-Related Neurologic Disorders/Seipinopathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org
  24. Blumen et al. (2012) Ann Neurol 71: 509-519.
  25. Kuhlenbaumer G, Timmerman V, Bomont P (Updated June 2012). Giant Axonal Neuropathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.gen
  26. Mehta (Updated March 2011). Fabry Disease. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
  27. Guenther et al. (2007) Hum Mut 28(8): 808-815.
  28. Rossor et al. (2012) J Neurol Neurosurg Psychiatry 83: 6-14.
  29. Kim et al. (2013) Orphanet J Rare Dis 8:104
  30. Zuchner et al. (2006) Am J Hum Genet 79(2): 365- 369.
  31. Beetz et al. (2012) Am J Hum Genet 91: 139-145.
  32. Howard et al. (2002) Nat Genet 32: 384-392
  33. Ishiura et al. (2012) Am J Hum Genet 91: 320-329.
  34. Sekijima et al (Updated January 2012). Familial Transthyretin Amyloidosis. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.or
  35. Durr et al. (2004) Arch Neurol 61: 1867-1872
  36. Guelly et al. (2011) Am J Hum Genet 88:99-105
  37. Klein (Updated May 2012) DNMT1- Related Dementia, Deafness, and Sensory Neuropathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.gen
  38. Auer-Grumbach et al. (2006) NeuroMolecular Medicine 8: 147-159.
  39. Riviere et al. (2011). Am J Hum Genet 89: 219-230.
  40. Faber et al. (2012) Ann Neurol 71(1): 26-39.
  41. Rotthier et al. (2010) Am J Hum Genet 87: 513-522.
  42. Lo Giudice et al. (2014) Exp Neurol 25: 518-39.
  43. Horga et al. (2015) J. Neurol. 262 (8):1984-6 (PMID: 26194197)
  44. Foley et al. (2014) Brain : A Journal Of Neurology 137 (Pt 1):44-56 (PMID: 24253200)
  45. Boyer et al. (2011) The New England Journal Of Medicine 365 (25):2377-88 (PMID: 22187985)
  46. Goizet et al. (2009) Human Mutation 30 (2):E376-85 (PMID: 18853458)
  47. Jordanova et al. (2006) Nature Genetics 38 (2):197-202 (PMID: 16429158).

Forms and Documents

Test Details

PMP22
  • Confirmation of clinical diagnosis
  • Identification of at-risk family members
  • Can assist with management/treatment decisions
  • Exon Array CGH

Ordering

742
2 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81324x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Bird (Updated May 2010). Hereditary Neuropathy with Liability to Pressure Palsies. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
  2. Bird (Updated July 2013). Charcot-Marie-Tooth Hereditary Neuropathy Overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
  3. Li, J (2012) Semin Neurol. 32(3): 204-214.
  4. Nelis et al. (2006) Eur J Hum Genet 4(1): 25-33.
  5. Siskind et al. (2013) J Genet Counsel 22:422-436.

Forms and Documents

Test Details

GJB1, MFN2, MPZ, PMP22
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

884
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81324x1, 81325x1, 81403x1, 81405x1, 81406x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Siskind et al. (2013) Journal of genetic counseling 22 (4):422-36 (PMID: 23604902).
  2. Vallat et al. (2013) Current opinion in neurology 26 (5):473-80 (PMID: 23945280).
  3. Murphy et al. (2012) Journal of neurology, neurosurgery, and psychiatry 83 (7):706-10 (PMID: 22577229).
  4. Bird (Updated March 2014). Charcot-Marie-Tooth Hereditary Neuropathy Overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genete
  5. Bird (Updated February 2014). Charcot-Marie-Tooth Neuropathy Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2010. Available at http://www.genetests.org
  6. Bird (Updated May 2010). Hereditary Neuropathy with Liability to Pressure Palsies. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.ge
  7. Al-Thihli et al. (2008) American journal of medical genetics. Part A 146A (18):2412-6 (PMID: 18698610).
  8. Baets et al. (2011) Brain : a journal of neurology 134 (Pt 9):2664-76 (PMID: 21840889).
  9. Shy, et al. (2006) Journal of the neurological sciences 242 (1-2):55-66 (PMID: 16414078).
  10. Mazzeo et al. (2008) Acta neurologica Scandinavica 118 (5):328-32 (PMID: 18422810).
  11. Zuchner (Updated August 2013). Charcot-Marie-Tooth Neuropathy type 2A. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2010. Available at http://www.genetests.org.
  12. Chung et al. (2006) Brain 129: 2103-2118.
  13. Verhoeven et al. (2006) Brain 129: 2093-2102.
  14. Bird (Updated March 2013). Charcot-Marie-Tooth Neuropathy X Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2010. Available at http://www.genetests.org.
  15. Reilly et al. (2011) Journal of the peripheral nervous system: JPNS 16 (1):1-14 (PMID: 21504497).
  16. Saporta et al. (2011) Annals of neurology 69 (1):22-33 (PMID: 21280073).

Forms and Documents

Test Details

AARS, BSCL2, DNM2, DYNC1H1, GARS, GDAP1, GJB1, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, LMNA, LRSAM1, MFN2, MPZ, NEFL, PRPS1, RAB7A, TRPV4, YARS
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

885
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81403x1, 81404x1, 81405x4, 81406x4
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Latour et al. (2010) Am J Hum Genet 86:77-82.
  2. McLaughlin et al. (2012) Hum Mutat 33(1): 244-253.
  3. Ito (Updated June 2012). BSCL2-Related Neurologic Disorders/Seipinopathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.o
  4. Claeys et al. (2009) Brain 132:1741-1752.
  5. Harms et al. (2012) Neurol 78:1741-1720.
  6. Poirier et al. (2013) Nat Genet 45(6): 639.
  7. Saporta et al. (2011) Ann Neurol 69(1): 22-33.
  8. Bird (Updated April 2014). Charcot-Marie-Tooth Neuropathy Type 4. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
  9. Siskind et al. (2013) J Genet Counsel 22: Information Sheet on Axonal CMT Panel Page 4 of 4 © GeneDx Creation date: 9/2014 422-436. 1
  10. Capponi et al. (2011) J Peripheral Nervous System 16: 287-294.
  11. Irobi et al. (2004) Hum Molec Genet 13(2): R195-R202.
  12. Bird (Updated July 2014). Charcot-Marie-Tooth Neuropathy Type 2. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
  13. Weterman et al. (2012) Hum Molec Genet 21(2): 358-370
  14. Guernsey et al. (2010) PLoS Genetics 6(8): 1-7
  15. Reilly et al. (2011) J Periph Nervous System 16: 1-14
  16. Baets et al. (2011) Brain 134: 2664-2676.1
  17. Kim and Kim (Updated June 2013). Charcot-Marie-Tooth Neuropathy X Type 5 In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.or
  18. Davidson et al. (2012) J Neurol 259: 1673-1685.
  19. Horga et al. (2015) J. Neurol. 262 (8):1984-6 (PMID: 26194197).
  20. Guenther et al. (2007) Hum Mut 28(8): 808-815.
  21. Boyer et al. (2011) The New England Journal Of Medicine 365 (25):2377-88 (PMID: 22187985).
  22. Jordanova et al. (2006) Nature Genetics 38 (2):197-202 (PMID: 16429158)

Forms and Documents

Test Details

DNM2, EGR2, FGD4, FIG4, GDAP1, GJB1, INF2, LITAF, MFN2, MPZ, MTMR2, NDRG1, NEFL, PMP22, PRPS1, PRX, SBF2, SH3TC2, YARS
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

886
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81324x1, 81325x1, 81403x1, 81404x2, 81405x4, 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Claeys et al. (2009) Brain 132:1741-1752.
  2. Bird (Updated March 2015). Charcot-Marie-Tooth Neuropathy Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
  3. Bird (Updated August 2015). Charcot-Marie-Tooth Neuropathy Type 4. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
  4. Azzedine et al. (2012) Molecular syndromology 3 (5):204-14 (PMID: 23293578)
  5. Saporta et al. (2011) Annals of neurology 69 (1):22-33 (PMID: 21280073)
  6. Murphy et al. (2012) Journal of neurology, neurosurgery, and psychiatry 83 (7):706-10 (PMID: 22577229)
  7. Saporta et al. (2011) Ann Neurol 69(1): 22-33. 5. Siskind et al. (2013) J Genet Counsel 22: 422-436.
  8. Bird (Updated April 2015). Charcot-Marie-Tooth Neuropathy Type 2. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
  9. Reilly et al. (2011) J Periph Nervous System 16: 1-14.
  10. Baets et al. (2011) Brain 134: 2664-2676.
  11. Vallat et al. (2013). Curr Opin Neurol 26(5): 473-480.
  12. Nelis et al. (2006) Eur J Hum Genet 4(1): 25- 33.
  13. Azzedine, Bontoux, and LeGuern (Updated October 2015). Charcot-Marie-Tooth Neuropathy Type 4C. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
  14. Boyer et al. (2011) The New England Journal Of Medicine 365 (25):2377-88 (PMID: 22187985).
  15. Jordanova et al. (2006) Nature Genetics 38 (2):197-202 (PMID: 16429158).

Forms and Documents

Test Details

PMP22
  • Confirmation of clinical diagnosis
  • Identification of at-risk family members
  • Can assist with management/treatment decisions
  • Next-Gen Sequencing

Ordering

888
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81325x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Bird (Updated May 2010). Hereditary Neuropathy with Liability to Pressure Palsies. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.ge
  2. Bird (Updated July 2013). Charcot-Marie-Tooth Hereditary Neuropathy Overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetes
  3. Li, J (2012) Semin Neurol. 32(3): 204-214.
  4. Nelis et al. (2006) Eur J Hum Genet 4(1): 25-33
  5. Siskind et al. (2013) J Genet Counsel 22:422-436.

Forms and Documents

Test Details

AARS, BSCL2, DNAJB2, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, KIF5A, LITAF, LMNA, LRSAM1, MFN2, MPZ, MTMR2, NDRG1, NEFL, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF2, SH3TC2, SLC12A6, TRPV4, YARS
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific mutation(s) previously identified in an affected family member
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J778
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81324x1, 81325x1, 81403x1, 81405x1, 81406x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Siskind et al. (2013) Journal of genetic counseling 22 (4):422-36 (PMID: 23604902).
  2. Vallat et al. (2013) Current opinion in neurology 26 (5):473-80 (PMID: 23945280).
  3. Reilly et al. (2009) Journal of neurology, neurosurgery, and psychiatry 80 (12):1304-14 (PMID: 19917815).
  4. Azzedine et al. (2012) Molecular syndromology 3 (5):204-14 (PMID: 23293578).
  5. Saporta et al. (2011) Annals of neurology 69 (1):22-33 (PMID: 21280073).
  6. Murphy et al. (2012) Journal of neurology, neurosurgery, and psychiatry 83 (7):706-10 (PMID: 22577229).