Charcot-Marie-Tooth Gene Panels

Test Information
Test Name	Charcot-Marie-Tooth Gene Panels
Lab (Location)	London Health Sciences Centre
Category	Neurogenetics
Subcategory	Charcot-Marie-Tooth disease
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
Test type	Gene Panel
Samples Accepted	Blood, DNA
Indications Diagnosis	Diagnosis, Carrier / Cascade Testing, Prenatal
Test Methodology	CNV, Sequencing
Diseases/Conditions	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)