Genetic Test Details
Charcot-Marie-Tooth Gene Panels
Test Information
- Titre
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Charcot-Marie-Tooth Gene Panels
- Catégorie
- Neurogenetics
- Sub Category
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Charcot-Marie-Tooth disease
- Gene/Platform/Region List
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AARS, ABHD12, AHNAK2, AIFM1, ARHGEF10, ARHGEF28, ATP1A1, ATP7A, BAG3, BSCL2, C1orf194, CNTNAP1, DCTN1, DCTN2, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, JAG1, KARS, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NEFL, PDK3, PDXK, PLEKHG5, PMP2, PMP22, PNKP, PRPS1, PRX, PTRH2, RAB7A, SBF1, SBF2, SCO2, SELRC1, SEPT9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC9A3R1, SORD, SPG11, SPTLC1, SURF1, TFG, TRIM2, TRPV4, TTR, VCP, VRK1, WARS, YARS
- Test type
- Gene Panel
- Samples Accepted
- Blood , DNA
- Indications
- Diagnostics , Carrier Cascade Testing , Prenatal
- Test Methodology
- CNV , Sequencing
- Disease/Condition
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Charcot Marie Tooth disease (CMT), hereditary motor and sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN), hereditary sensory neuropathy (HSN or HSAN), distal spinal muscular atrophy (DSMA), Dejerine-Sottas syndrome (DSS)
Dernière Mise à Jour: 18 juin 2025