Charcot-Marie-Tooth Disease
NGS panel

Genes
(full
coding region):		 AARS1, ABHD12, AIFM1, ARHGEF10, ARSA, ATP1A1, BSCL2, C12orf65, COX6A1, CTDP1, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FGD4, FIG4, GAN, GARS1, GDAP1, GJB1, GNB4, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KARS1, KIF1A, KIF5A, KIF1B, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NGF, NTRK1, PDK3, PLEKHG5, PMP22, POLG, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN9A, SEPTIN9, SETX, SH3TC2, SLC5A7, SPTLC1, SPTLC2, SURF1, TFG, TRIM2, TRPV4, TYMP, VCP, WARS1, WNK1, YARS1

List of diseases covered by the panel
Non-coding variants: List of non-coding variants covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis 

Genes: EGR2, GARS1, GDAP1, GJB1, HSPB1, HSBP8, KIF1B, MFN2, MPZ, MTMR2, NEFL, PMP22, PRX, RAB7A, SBF2, SH3TC2, SPTLC1
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2,5 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Genetic counseling

Charcot-Marie-Tooth disease (CMT) also known as Charcot–Marie–Tooth neuropathy is a heterogeneous group of disorders characterized by distal muscle weakness and atrophy and loss of sensation in the feet and/or hands. Usually, the initial symptoms are foot deformities, such as high arches and hammertoes and “inverted champagne bottle” appearance of the lower parts of the legs. Weakness and muscle atrophy may occur in the hands as the disease progresses. Other symptoms of the disease may include hearing loss and scoliosis.

Prevalence of CMT hereditary neuropathy is about 1:2500.

Based on clinical manifestations and affected genes, CMT can be divided into types and subtypes. The most common form of CMT is Charcot-Marie-Tooth type 1A caused by duplication of or mutation in the PMP22 gene.

CMT neuropathy can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.