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NGS Muscle disorders

Panel name NGS Muscle disorders
Panel method WES-based NGS
Panel version ** v3
Panel quality ***
Core-NL No core-NL genes included
CNV analysis No
Location Location AMC
Genes (172) Quality % coverage >30 % coverage >20 Core-NL Note
ACADVL
ACTA1
ACVR1
AGL
AGRN
ALG14
ALG2
ANO5
ATP2A1
ATP7A
B3GALNT2
B4GAT1
BAG3
BICD2
BIN1
CACNA1S
CAPN3
CASQ1
CAV3
CAVIN1
CAVIN1
CCDC78
CFL2
CHAT
CHCHD10
CHKB
CHRNA1
CHRNB1
CHRND
CHRNE
CLCN1
CNTN1
COL12A1
COL13A1
COL6A1
COL6A2
COL6A3
COLQ
CPT2
CRPPA
CRYAB
DAG1
DES
DMD
DNA2
DNAJB6
DNM2
DOK7
DPAGT1
DPM1
DPM2
DPM3
DYNC1H1
DYSF
ECEL1
EMD
ENO3
ERBB3
EXOSC8
FAM111B
FHL1
FKBP14
FKRP
FKTN
FLNC
GAA
GBE1
GFPT1
GMPPB
GNE
GYG1
GYS1
HSPG2
IGHMBP2
INPP5K
ISCU
ITGA7
KBTBD13
KCNJ2
KLHL40
KLHL41
KLHL9
LAMA2
LAMA5
LAMP2
LARGE1
LDB3
LDHA
LMNA
LMOD3
LPIN1
MEGF10
MICU1
MORC2
MSTN
MTM1
MUSK
MYF6
MYH2
MYH3
MYH7
MYO9A
MYOT
NAPA
NEB
OPA1
ORAI1
PABPN1
PFKM
PGAM2
PGK1
PGM1
PHKA1
PIP5K1C
PLEC
PNPLA2
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PREPL
PRPS1
PYGM
PYROXD1
RAPSN
RBCK1
RPH3A
RRM2B
RXYLT1
RYR1
SCN4A
SELENON
SGCA
SGCB
SGCD
SGCG
SLC18A2
SLC18A3
SLC25A1
SLC25A4
SLC52A2
SLC52A3
SLC5A7
SMCHD1
SPEG
STIM1
SYT2
TANGO2
TCAP
TNNI2
TNNT1
TNPO3
TPM2
TPM3
TRAPPC11
TRIM32
TRIP4
TRPV4
TTC19
TTN
TWNK
UBA1
UNC13A
VAMP1
VCP
VIPAS39
VMA21
VRK1
XK
YARS1
ZC4H2
Indication(s)
Muscle Disorders

** 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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