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, AIFM1, ATL1, ATP7A, BSCL2, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, GNB4, HARS, HINT1, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KIF1A, KIF5A, LITAF, LMNA, LRSAM1, MFN2, MME, MORC2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PLEKHG5, PMP22, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SCN11A, SCN9A, SEPT9, SH3TC2, SLC12A6, SLC52A2, SLC52A3, SPTLC1, SPTLC2, TFG, TRIM2, 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
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

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

Billing

81260X1, 81324X1, 81325X1, 81403x1, 81404x4, 81405x2, 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

PMP22
  • Confirmation of clinical diagnosis
  • Identification of at-risk family members
  • Can assist with management/treatment decisions
  • Deletion/Duplication Analysis

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
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

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

Billing

81324x1, 81325x1, 81405x1, 81406x1, 81403X1
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, AIFM1, BSCL2, DNAJB2, DNM2, DYNC1H1, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, KIF5A, LMNA, LRSAM1, MFN2, MME, MORC2, MPZ, NEFL, PLEKHG5, PRPS1, RAB7A, SLC12A6, TRIM2, 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
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

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

Billing

81403x1, 81404x1, 81405x2, 81406x2, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

DNM2, EGR2, FGD4, FIG4, GDAP1, GJB1, GNB4, INF2, LITAF, MFN2, MPZ, MTMR2, NDRG1, NEFL, PLEKHG5, PMP22, PRPS1, PRX, SBF1, SBF2, SH3TC2, SLC12A6, 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
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

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

Billing

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

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, AIFM1, BSCL2, DNAJB2, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, KIF5A, LITAF, LMNA, LRSAM1, MFN2, MME, MORC2, MPZ, MTMR2, NDRG1, NEFL, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, SLC12A6, TRIM2, 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
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

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

Billing

81324x1, 81325x1, 81404x3, 81405x2, 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com