GDT Ontario Health Testing Eligibility
Neuromuscular Disease
GTD Indications
Diagnosis
Carrier / Cascade Testing
Prenatal
GTD Samples Accepted
Blood
DNA
GTD Test Methodology
CNV
Sequencing
Generic Test name (cms title)
Charcot-Marie-Tooth disease
GTD Test type
Gene Panel
GTD Location
London Health Sciences Centre
GTD Gene/Platform/Region List
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
GTD Category
Neurogenetics
GTD Disease/Condition
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)