Neuropathies comprehensive panel [150 genes]

Charcot-Marie-Tooth (CMT) disease, or sensorimotor neuropathy, is the most frequent hereditary neuromuscular disease, with a prevalence of 1/2,500 individuals (Suter and Sherer, 2003).

At the molecular level, CMT is a complex disorder, with at least 1,000 associated genetic variants in some 80 genes (Timmerman et al., 2014). In some wide described series, molecular alteration is identified in 60-70% of patients (80% of the demyelinating forms and 25% of the axonal forms) (Rossor et al., 2015). Approximately 90% of abnormalities are distributed in the PMP22, MPZ, GJB1, and MFN2 genes (DiVicenzo et al., 2015), although this value varies between populations, being particularly lower in regions with a high prevalence of recessive hereditary forms. Forty to fifty percent of CMT cases are demyelinating or type 1 (CMT1), of which 70-80% are caused by the duplication of a region of approximately 1,5 Mb which contains the PMP22 gene (CMT1A).

Hereditary motor neuropathy (HMN) comprises 10% of all hereditary neuropathies, with a diagnosis rate of 20-32% (Bansagi et al., 2017).

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Neuropathies comprehensive panel

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Ref. S-202008657

Neuropathies comprehensive panel: View panel
  • AAAS
  • AARS
  • ABCD1
  • ABHD12
  • ACO2
  • AFG3L2
  • AGTPBP1
  • AIFM1
  • APTX
  • ARL6IP1
  • ASAH1
  • ATL1
  • ATL3
  • ATP1A1
  • ATP7A
  • BAG3
  • BICD2
  • BSCL2
  • C12orf65
  • C1orf194
  • CCT5
  • CLTCL1
  • CNTNAP1
  • COA7
  • COX6A1
  • CTDP1
  • CYP27A1
  • CHCHD10
  • DCAF8
  • DCTN1
  • DGAT2
  • DHTKD1
  • DNAJB2
  • DNM1L
  • DNM2
  • DNMT1
  • DRP2
  • DST
  • DYNC1H1
  • EGR2
  • FBLN5
  • FBXO38
  • FDXR
  • FGD4
  • FIG4
  • FXN
  • GAN
  • GARS
  • GDAP1
  • GJB1
  • GJB3
  • GLA
  • GM2A
  • GNB4
  • GSN
  • HADHB
  • HARS
  • HEXA
  • HEXB
  • HINT1
  • HK1
  • HSPB1
  • HSPB3
  • HSPB8
  • IGHMBP2
  • ELP1
  • INF2
  • KARS
  • KIF1A
  • KIF5A
  • L1CAM
  • LITAF
  • LMNA
  • LRSAM1
  • MARS
  • MCM3AP
  • MFN2
  • MME
  • MORC2
  • MPV17
  • MPZ
  • MTMR2
  • MTTP
  • NAGLU
  • NDRG1
  • NEFH
  • NEFL
  • NGF
  • NTRK1
  • OPA1
  • OPA3
  • PDK3
  • PEX7
  • PHYH
  • PLEKHG5
  • PLP1
  • PMP2
  • PMP22
  • PNKP
  • POLG
  • PRDM12
  • PRNP
  • PRPS1
  • PRX
  • RAB7A
  • REEP1
  • RETREG1
  • RTN4IP1
  • SACS
  • SBF1
  • SBF2
  • SCN10A
  • SCN11A
  • SCN9A
  • SCO2
  • SEPT9
  • SETX
  • SGPL1
  • SH3TC2
  • SIGMAR1
  • SLC12A6
  • SLC25A46
  • SLC52A2
  • SLC52A3
  • SLC5A7
  • SOX10
  • SPG11
  • SPG7
  • SPTAN1
  • SPTLC1
  • SPTLC2
  • SURF1
  • SYT2
  • TFG
  • TIMM8A
  • TMEM126A
  • TRIM2
  • TRIP4
  • TRPA1
  • TRPV4
  • TTR
  • UBA1
  • VAPB
  • VCP
  • VRK1
  • WARS
  • WFS1
  • WNK1
  • YARS
  • ZFHX2

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Related panels
Neuropathies comprehensive panel [150 genes]

Phenotypes

  • PMP22: Charcot-Marie-Tooth type 1A (CMT1A or duplication of the 17p12 region)
  • PMP22: Tomacular neuropathy/hereditary neuropathy with liability to pressure palsies (HNPP or deletion of the 17p12 region)
  • GAN: Giant axonal neuropathy
  • SEPT9: Hereditary neuralgic amyotrophy
  • ELP1: Familial dysautonomia

References

  • Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh
  • V, Franko E, Pyle A, Lochmüller H, Chinnery PF, Horvath R. Genetic heterogeneity of motor neuropathies. Neurology. 2017 Mar 28;88(13):1226-1234.
  • DiVincenzo C, Elzinga CD, Medeiros AC, Karbassi I, Jones JR, Evans MC, Braastad CD, Bishop CM, Jaremko M, Wang Z, Liaquat K, Hoffman CA, York MD,
  • Batish SD, Lupski JR, Higgins JJ. The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. Mol Genet Genomic Med. 2014 Nov;2(6):522-9.
  • Rossor AM, Evans MR, Reilly MM. A practical approach to the genetic neuropathies. Pract Neurol. 2015 Jun;15(3):187-98.
  • Suter U, Scherer SS. Disease mechanisms in inherited neuropathies. Nat Rev Neurosci. 2003 Sep;4(9):714-26.
  • Timmerman V, Strickland AV, Züchner S. Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success. Genes (Basel). 2014 Jan 22;5(1):13-32.