Hereditary neuropathies comprehensive panel

Hereditary neuropathies comprehensive panel

[107 genes]

TOURNAROUND TIME: 6 WEEKS

AAAS AARS ABCD1 AIFM1 APTX ASAH1 ATL1 ATL3 BICD2 BSCL2
CCT5 CHCHD10 COX6A1 CYP27A1 DCTN1 DHTKD1 DNAJB2 DNM2 DNMT1 DST
DYNC1H1 EGR2 ELP1 FBLN5 FBXO38 FGD4 FIG4 FXN GAN GARS
GDAP1 GJB1 GJB3 GM2A GNB4 HARS HEXA HEXB HINT1 HK1
HSPB1 HSPB3 HSPB8 IGHMBP2 INF2 KARS KIF1A KIF5A L1CAM LITAF
LMNA LRSAM1 MARS MED25 MFN2 MME MORC2 MPV17 MPZ MTMR2
NAGLU NDRG1 NEFH NEFL NGF NTRK1 PDK3 PHYH PLEKHG5 PLP1
PMP22 PNKP POLG PRPS1 PRX RAB7A REEP1 RETREG1 (FAM134B) SBF1 SBF2
SCN10A SCN11A SCN9A SEPT9 SETX SGPL1 SH3TC2 SIGMAR1 SLC12A6 SLC52A2
SLC52A3 SLC5A7 SOX10 SPG11 SPTLC1 SPTLC2 SURF1 TFG TRIM2 TRPA1
TRPV4 TTR UBA1 VAPB VCP WNK1 YARS
AAAS AARS ABCD1 AIFM1
APTX ASAH1 ATL1 ATL3
BICD2 BSCL2 CCT5 CHCHD10
COX6A1 CYP27A1 DCTN1 DHTKD1
DNAJB2 DNM2 DNMT1 DST
DYNC1H1 EGR2 ELP1 FBLN5
FBXO38 FGD4 FIG4 FXN
GAN GARS GDAP1 GJB1
GJB3 GM2A GNB4 HARS
HEXA HEXB HINT1 HK1
HSPB1 HSPB3 HSPB8 IGHMBP2
INF2 KARS KIF1A KIF5A
L1CAM LITAF LMNA LRSAM1
MARS MED25 MFN2 MME
MORC2 MPV17 MPZ MTMR2
NAGLU NDRG1 NEFH NEFL
NGF NTRK1 PDK3 PHYH
PLEKHG5 PLP1 PMP22 PNKP
POLG PRPS1 PRX RAB7A
REEP1 RETREG1 (FAM134B) SBF1 SBF2
SCN10A SCN11A SCN9A SEPT9
SETX SGPL1 SH3TC2 SIGMAR1
SLC12A6 SLC52A2 SLC52A3 SLC5A7
SOX10 SPG11 SPTLC1 SPTLC2
SURF1 TFG TRIM2 TRPA1
TRPV4 TTR UBA1 VAPB
VCP WNK1 YARS
RELATED PHENOTYPES
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) PMP22
Giant axonal neuropathy GAN
Hereditary neuralgic amyotrophy SEPT9
Familial dysautonomia ELP1(IKBKAP)

LOCI INCLUDED:
| CMT1A | CMT1B | CMT1C | CMT1D | CMT1E | CMT1F | CMT2A2A | CMT2A2B | CMT2B | CMT2B1 | CMT2B2 | CMT2C | CMT2CC | CMT2D | CMT2E | CMT2F | CMT2I | CMT2J | CMT2K | CMT2L | CMT2M | CMT2N | CMT2O | CMT2P | CMT2R | CMT2S | CMT2T | CMT2U | CMT2V | CMT2V | CMT2W | CMT2Z | CMT4A | CMT4B1 | CMT4B2 | CMT4B3 | CMT4C | CMT4D | CMT4F | CMT4G | CMT4H | CMT4J | CMT4K | CMTDIB | CMTDIC | CMTDIE | CMTDIF | CMTRIA | CMTRIB | CMTRIC | CMTRID | CMTX1 | CMTX6 | DSMA1 | DSMA2 | DSMA3 | DSMA4 | DSMA5 | FEPS1 | FEPS2 | FEPS3 | HMN2A | HMN2B | HMN2D | HMN5A | HMN5B | HMN7B | HMN8 | HSAN1A | HSAN2B | HSAN2D | HSAN3 | HSAN4 | HSAN5 | HSAN7 | HSN1C | HSN1D | HSN1E | HSN1F | HSN2A | HSN2C | SMALED1 | SMALED2 |

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

    CMT is a complex disorder at the molecular level, with at least 1 000 genetic variants associated with about 80 genes (Timmerman et al., 2014). In the wide series described, molecular alteration is identified in 60%-70% of patients (80% of demyelinating forms and 25% of axonal forms) (Rossor et al., 2015). Approximately 90% of alterations are found in genes PMP22, MPZ, GJB1, and MFN2 (DiVicenzo et al., 2015), although this number varies among populations and is particularly reduced in regions with a high prevalence of recessive inheritance forms. 40%-50% of CMT cases are type 1 (CMT1, demyelinating form), of which 70-80% are caused by a duplication of a region of about 1.5 Mb in 17p12 containing 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).

    REFERENCES
    1. 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.
    2. 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.
    3. Rossor AM, Evans MR, Reilly MM. A practical approach to the genetic neuropathies. Pract Neurol. 2015 Jun;15(3):187-98.
    4. Suter U, Scherer SS. Disease mechanisms in inherited neuropathies. Nat Rev Neurosci. 2003 Sep;4(9):714-26. Review. PubMed PMID: 12951564.
    5. 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.

 

NEUROLOGY PORTFOLIO


STUDY REQUEST
Select the panel you wish to request


INFORMED CONSENT
Required document in order to perform the study


VARIANT CLASSIFICATION
Variant classification and clinical usefulness criteria

Este sitio web utiliza cookies para que usted tenga la mejor experiencia de usuario. Si continúa navegando está dando su consentimiento para la aceptación de las mencionadas cookies y la aceptación de nuestra política de cookies, pinche el enlace para más información

Los ajustes de cookies de esta web están configurados para "permitir cookies" y así ofrecerte la mejor experiencia de navegación posible. Si sigues utilizando esta web sin cambiar tus ajustes de cookies o haces clic en "Aceptar" estarás dando tu consentimiento a esto.

Cerrar