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NGS Neuropathy

Panel name NGS Neuropathy
Panel method Targeted NGS
Panel version ** NEUROv8
Panel quality *** A/C
Core-NL No core-NL genes included
CNV analysis No
Note If desired, select Del/Dup PMP22 separately
Location Location AMC
Genes (121) Quality % coverage >30 % coverage >20 Core-NL Note
AARS1 C 100.00 100.00
ABHD12 C 99.98 100.00
AIFM1 C 100.00 100.00
ARHGEF10 C 100.00 100.00
ARSA C 100.00 100.00
ATL1 C 100.00 100.00
ATL3 C 99.87 99.95
ATM C 100.00 100.00
ATP1A1 C 100.00 100.00
ATP7A C 100.00 100.00
BAG3 C
BICD2 C 100.00 100.00
BSCL2 C 100.00 100.00
CCT5 C 100.00 100.00
COX6A1 C 100.00 100.00
CTDP1 A
DCAF8 C 100.00 100.00
DCTN1 C 100.00 100.00
DGAT2 C 100.00 100.00
DHTKD1 C 100.00 100.00
DNAJB2 C 100.00 100.00
DNAJC3 C 100.00 100.00
DNM2 C 100.00 100.00
DNMT1 C 99.69 99.91
DRP2 C 100.00 100.00
DST C 100.00 100.00
DYNC1H1 C 100.00 100.00
EGR2 A
ELP1 C 100.00 100.00
FBLN5 C 100.00 100.00
FBXO38 C 100.00 100.00
FGD4 A
FIG4 C 100.00 100.00
FLVCR1 C 100.00 100.00
GALC C 100.00 100.00
GAN A
GARS1 C 100.00 100.00
GDAP1 A 100.00 100.00
GJB1 A
GJB3 A 100.00 100.00
GNB4 C 100.00 100.00
HARS1 C 100.00 100.00
HINT1 A
HK1 C 99.82 99.99
HOXD10 C 100.00 100.00
HSPB1 A
HSPB3 C 100.00 100.00
HSPB8 A
IFRD1 C 100.00 100.00
IGHMBP2 A
INF2 C 100.00 100.00
KARS1 C 100.00 100.00
KIF1A C 100.00 100.00
KIF1B C 100.00 100.00
KIF5A C 100.00 100.00
LAS1L C 100.00 100.00
LITAF A
LMNA A 100.00 100.00
LRSAM1 A 100.00 100.00
MARS1 C 100.00 100.00
MCM3AP C 100.00 100.00
MED25 C 100.00 100.00
MFN2 A
MME C 100.00 100.00
MORC2 C 100.00 100.00
MPV17 C
MPZ A 100.00 100.00
MTMR2 A 100.00 100.00
MYH14 C 100.00 100.00
NAGLU C 99.27 99.46
NDRG1 C 100.00 100.00
NEFH C 100.00 100.00
NEFL A
NGF A 100.00 100.00
NTRK1 C 100.00 100.00
PDK3 A
PEX1 C 100.00 100.00
PEX16 C 100.00 100.00
PEX7 C 100.00 100.00
PHYH C 100.00 100.00
PLA2G6 C 100.00 100.00
PLEKHG5 C 100.00 100.00
PMP2 C 100.00 100.00
PMP22 A
PRDM12 C 100.00 100.00
PRPS1 C 100.00 100.00
PRX C 100.00 100.00
RAB7A A
REEP1 C 100.00 100.00
RETREG1 C 100.00 100.00
SBF1 C 99.99 99.99
SBF2 C 100.00 100.00
SCN10A C 100.00 100.00
SCN11A C 100.00 100.00
SCN9A C 99.98 99.99
SEPTIN9 C 100.00 100.00
SETX C 100.00 100.00
SH3TC2 A
SIGMAR1 C 100.00 100.00
SLC12A6 C 100.00 100.00
SLC25A46 C 100.00 100.00
SLC52A2 C 100.00 100.00
SLC52A3 C 99.84 99.85
SLC5A7 C 100.00 100.00
SOX10 C 100.00 100.00
SPG11 C 100.00 100.00
SPTLC1 A
SPTLC2 C 100.00 100.00
SURF1 C 100.00 100.00
TBCE C 100.00 100.00
TDP1 C 100.00 100.00
TFG C 100.00 100.00
TRIM2 C 100.00 100.00
TRPV4 A
TTR C 100.00 100.00
TUBB3 C 100.00 100.00
VCP C 100.00 100.00
VRK1 C 100.00 100.00
WARS1 C
WNK1 A 100.00 100.00
YARS1 C 100.00 100.00
Indication(s)
Charcot-Marie-Tooth CMT/HMSN
Neuropathy distal hereditary motor DHMN/DSMA
Neuropathy hereditary sensory and autonomic HSAN

** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory

*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C


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