Test Type

Genes Available



Best Use


Single Gene Sequencing (Traditional genetic testing) PMP22, MPZ, GJB1, MFN2, LITAF, EGR2, RAB7, GARS, FEFL, HSPB1, HSPB8, GDAP1, SH3TC2, PRX, FIG4, DNM2, YARS, FGD4, NDRG1, TRPV4, MTMR2, SBF2, etc. Good historical database to track variants of uncertain significance; Quick turn around time If testing for more than one gene, can get expensive. If it is easy to narrow down the most likely type of CMT to one to three genes based on clinical presentation and family history. GeneDx, Athena, Medical Neurogenetics, Prevention Genetics
Next Generation Sequencing AARS , ATL1; DNM2; DNMT1; DYNC1H1; EGR2; FGD4; GARS; GDAP1; GJB1; GLA; HSPB1; HSPB8; KIF1B; LITAF; LMNA; LRSAM1; MED25; MFN2; MPZ; MTMR2; NDRG1; NEFL; PMP22; PRX; RAB7A; SBF2; SCN9A; SH3TC2; SPTLC2; TRPV4; TTR; YARS Cheap Many of the genes are only peripherally associated with CMT – just known to cause peripheral neuropathy. Sequencing more genes can lead to more variants and not necessarily a clear result. Deletions and duplications not picked up as well as in traditional testing or CGH. Turn around time can be lengthy. Unusual presentation of CMT. GeneDx, Medical Neurogenetics, InVitae, Prevention Genetics
Microarray Testing (AKA array CGH, aCGH) PMP22 duplication/deletion Cheap and quick Can only be used to determine if someone has CMT1A or HNPP. Can pick up incidental findings if there are duplications or deletions in other parts of the genome. If someone has classical signs of CMT1A or HNPP, it is the cheapest way to determine if the duplication or deletion is present. Countless options – many universities will have their own on-site platform. Others: GeneDx, Signature Genomics, Lineagen, Baylor College of Medicine
Familial Testing Any gene that has been previously identified in the family. This testing can look for just the one mutation that was previously found in the family. Cheap, precise None Testing after there is a found disease-causing genetic mutation in someone else in the family. The lab where the original testing was performed. If testing was performed on a research basis, some labs will confirm the single mutation, including University of Chicago and GeneDx.