Scientific Background and Reference Sources
Abrams, C. (2020). GJB1 Disorders: Charcot Marie Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes. https://www.ncbi.nlm.nih.gov/books/NBK1374/
Anthony Antonellis, P., Lev G Goldfarb, MD, and Kumaraswamy Sivakumar, MD. (2018). GARSAssociated Axonal Neuropathy. https://www.ncbi.nlm.nih.gov/books/NBK1242/
Athena Diagnostics. (2023). CMT Advanced Evaluation - Comprehensive.
https://www.athenadiagnostics.com/view-full-catalog/c/cmt-advanced-evaluation-comprehensive
Bird, T. (2017). GDAP1-Related Hereditary Motor and Sensory Neuropathy.
https://www.ncbi.nlm.nih.gov/books/NBK1539/
Bird, T. (2023). Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview.
https://www.ncbi.nlm.nih.gov/books/NBK1358/
Bromberg, M. B. (2023, September 19). Brachial plexus syndromes.
https://www.uptodate.com/contents/brachial-plexus-syndromes
Burgunder, J. M., Schols, L., Baets, J., Andersen, P., Gasser, T., Szolnoki, Z., Fontaine, B., Van Broeckhoven, C., Di Donato, S., De Jonghe, P., Lynch, T., Mariotti, C., Spinazzola, A., Tabrizi, S. J., Tallaksen, C., Zeviani, M., Harbo, H. F., & Finsterer, J. (2011). EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders. Eur J Neurol, 18(2), 207-217.
https://doi.org/10.1111/j.1468-1331.2010.03069.x
Charcot-Marie-Tooth News. (2023). Genetic Tests and Genetic Counseling.
https://charcot-marietoothnews.com/genetic-tests/
Claritas Genomics. (2023). PMP22 Deletion/Duplication.
http://www.claritasgenomics.com/test/pmp22-deletionduplication/index.html
CMTA. (2023). Genetic Testing.
https://www.cmtausa.org/living-with-cmt/find-help/genetic-testing/
Cortese, A., Wilcox, J. E., Polke, J. M., Poh, R., Skorupinska, M., Rossor, A. M., Laura, M., Tomaselli, P. J., Houlden, H., Shy, M. E., & Reilly, M. M. (2020). Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease. Neurology, 94(1), e51-e61.
https://doi.org/10.1212/WNL.0000000000008672
Delague, V. (2013). Charcot-Marie-Tooth Neuropathy Type 4H.
https://www.ncbi.nlm.nih.gov/books/NBK153601/
DiVincenzo, C., Elzinga, C. D., Medeiros, A. C., Karbassi, I., Jones, J. R., Evans, M. C., Braastad, C. D., Bishop, C. M., Jaremko, M., Wang, Z., Liaquat, K., Hoffman, C. A., York, M. D., Batish, S. D., Lupski, J. R., & Higgins, J. J. (2014). The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. Mol Genet Genomic Med, 2(6), 522-529.
https://doi.org/10.1002/mgg3.106
Eichler, F. (2024, 05/02/2023). Hereditary sensory and autonomic neuropathies.
https://www.uptodate.com/contents/hereditary-sensory-and-autonomic-neuropathies
England, J. D., Gronseth, G. S., Franklin, G., Carter, G. T., Kinsella, L. J., Cohen, J. A., Asbury, A. K., Szigeti, K., Lupski, J. R., Latov, N., Lewis, R. A., Low, P. A., Fisher, M. A., Herrmann, D. N., Howard, J. F., Lauria, G., Miller, R. G., Polydefkis, M., & Sumner, A. J. (2009). Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of laboratory and genetic testing (an evidence-based review). Neurology, 72(2), 185.
https://doi.org/10.1212/01.wnl.0000336370.51010.a1
GeneDx. (2024). Hereditary Neuropathy Panel.
https://www.genedx.com/tests/detail/hereditaryneuropathy-panel-800
Hamid Azzedine, E. L., and Mustafa A Salih. (2015). Charcot-Marie-Tooth Neuropathy Type 4C.
https://www.ncbi.nlm.nih.gov/books/NBK1340/
Invitae. (2024). Invitae Comprehensive Neuropathies Panel.
https://www.invitae.com/us/providers/testcatalog/test-03200
Kang, P. (2024a, 05/30/2024). Charcot-Marie-Tooth disease: Genetics, clinical features, and diagnosis.
https://www.uptodate.com/contents/charcot-marie-tooth-disease-genetics-clinical-features-anddiagnosis
Kang, P. (2024b, September 22). Charcot-Marie-Tooth disease: Management and prognosis.
https://www.uptodate.com/contents/charcot-marie-tooth-disease-management-and-prognosis
Kang, P. (2024c, 04/15/2024). Overview of hereditary neuropathies.
https://www.uptodate.com/contents/overview-of-hereditary-neuropathies
Kim, J.-W., Kim, Hee-Jin. (2013). Charcot-Marie-Tooth Neuropathy X Type 5.
https://www.ncbi.nlm.nih.gov/books/NBK1876/
Li, J. (2013). Charcot-Marie-Tooth Neuropathy Type 4J.
https://www.ncbi.nlm.nih.gov/books/NBK169431/
MNG Laboratories. (2022). Charcot-Marie-Tooth Disease, Axonal (NGS Panel and Copy Number Analysis + mtDNA). https://mnglabs.com/tests/NGS345A/charcot-marie-tooth-disease-axonal-ngs-paneland-copy-number-analysis-mtdna
NINDS. (2007). Charcot-Marie-Tooth Disease Fact Sheet.
https://www.ninds.nih.gov/Disorders/PatientCaregiver-Education/Fact-Sheets/Charcot-Marie-Tooth-Disease-Fact-Sheet#3092_5
NINDS. (2023). Charcot-Marie-Tooth Disease.
https://www.ninds.nih.gov/healthinformation/disorders/charcot-marie-tooth-disease
Pareyson, D., Saveri, P., & Pisciotta, C. (2017). New developments in Charcot-Marie-Tooth neuropathy and related diseases. Curr Opin Neurol, 30(5), 471-480.
https://doi.org/10.1097/wco.0000000000000474
Peter De Jonghe, M., PhD and Albena K Jordanova, PhD. (2011). Charcot-Marie-Tooth Neuropathy Type 2E/1F. https://www.ncbi.nlm.nih.gov/books/NBK1187/
Prevention Genetics. (2023). Charcot-Marie-Tooth (CMT) - Comprehensive Panel.
https://www.preventiongenetics.com/testInfo?val=Charcot-Marie-Tooth+%28CMT%29+-+Comprehensive+Panel
Rudnik-Schöneborn, S., Auer-Grumbach, M., & Senderek, J. (2020). Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020. Medizinische Genetik, 32(3), 207-219.
https://doi.org/doi:10.1515/medgen-2020-2038
Rudnik-Schoneborn, S., Tolle, D., Senderek, J., Eggermann, K., Elbracht, M., Kornak, U., von der Hagen, M., Kirschner, J., Leube, B., Muller-Felber, W., Schara, U., von Au, K., Wieczorek, D., Bussmann, C., & Zerres, K. (2016). Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. Clin Genet, 89(1), 34-43.
https://doi.org/10.1111/cge.12594
Saporta, A. S., Sottile, S. L., Miller, L. J., Feely, S. M., Siskind, C. E., & Shy, M. E. (2011). Charcot-MarieTooth disease subtypes and genetic testing strategies. Ann Neurol, 69(1), 22-33.
https://doi.org/10.1002/ana.22166
Schindler, A. (2014). TRPV4-Associated Disorders.
https://www.ncbi.nlm.nih.gov/books/NBK201366/
UpToDate. (2024). Patient education: Charcot-Marie-Tooth disease (The Basics).
https://www.uptodate.com/contents/charcot-marie-tooth-disease-the-basics
Vaeth, S., Christensen, R., Duno, M., Lildballe, D. L., Thorsen, K., Vissing, J., Svenstrup, K., Hertz, J. M., Andersen, H., & Jensen, U. B. (2019). Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform. Eur J Med Genet, 62(1), 1-8. https://doi.org/10.1016/j.ejmg.2018.04.003
Yalcintepe, S., Gurkan, H., Dogan, I. G., Demir, S., Sag, S. O., Kabayegit, Z. M., Atli, E. I., Atli, E., Eker, D., & Temel, S. G. (2021). The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease. Turk Neurosurg, 31(6), 888-895.
https://doi.org/10.5137/1019-5149.jtn.33661-21.3
Züchner, S. (2013). Charcot-Marie-Tooth Neuropathy Type 2A.
https://www.ncbi.nlm.nih.gov/books/NBK1511/
Specialty Matched Consultant Advisory Panel review 7/2019
Medical Director review 7/2019
Specialty Matched Consultant Advisory Panel review 7/2020
Medical Director review 7/2020
Specialty Matched Consultant Advisory Panel review 7/2021
Medical Director review 7/2021
Medical Director review 7/2022
Medical Director review 7/2023
Medical Director review 7/2024