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NGS Analysen

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Untersuchungsbeauftragung

Z - Neuromuskuläre Erkrankungen - Gesamtpanel (559 Gene)

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AAAS
AARS1
AARS2
ABCA1
ABCB7
ABHD12
ABHD5
ACAD9
ACADM
ACADS
ACADVL
ACO2
ACTA1
ACTB
ACTG1
ACTG2
ADAR
ADCY6
ADGRG6
ADSL
ADSS1
AFG2A
AFG3L2
AGK
AGL
AGRN
AIFM1
AIMP1
ALAS2
ALG14
ALG2
ALS2
AMACR
AMPD1
ANG
ANO10
ANO5
APTX
ARHGEF10
ASAH1
ASCC1
ATL1
ATL3
ATM
ATP1A3
ATP2A1
ATP5F1A
ATP5F1E
ATP7A
ATP7B
ATPAF2
AUH
B3GALNT2
B4GAT1
BAG3
BCS1L
BICD2
BIN1
BOLA3
BSCL2
C19orf12
CACNA1S
CAD
CAPN3
CARS2
CASQ1
CAV3
CAVIN1
CCDC115
CCDC78
CCT5
CFL2
CHAT
CHCHD10
CHKB
CHMP2B
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
CHST14
CISD2
CLCN1
CLN3
CLP1
CLPB
CLPP
CNTN1
CNTNAP1
COA5
COA8
COL12A1
COL13A1
COL6A1
COL6A2
COL6A3
COLQ
COQ2
COQ4
COQ6
COQ7
COQ8A
COQ8B
COQ9
COX10
COX14
COX15
COX4I2
COX6A1
COX6B1
COX8A
CPT1A
CPT2
CRPPA
CRYAB
CTDP1
CUL4B
CYP27A1
D2HGDH
DAG1
DARS2
DCAF8
DCTN1
DES
DGAT2
DGUOK
DHTKD1
DLAT
DLD
DMD
DNA2
DNAJB2
DNAJB5
DNAJB6
DNAJC19
DNAJC3
DNM1L
DNM2
DNMT1
DNMT3B
DOK7
DOLK
DPAGT1
DPM1
DPM2
DPM3
DST
DYNC1H1
DYNC2H1
DYSF
EARS2
ECEL1
ECHS1
EGR2
EIF2AK3
ELP1
EMD
EPG5
ERBB3
ERCC6
ETFA
ETFB
ETFDH
ETHE1
EXOSC3
EXOSC8
FAM20C
FARS2
FASTKD2
FAT1
FBLN5
FBN2
FBXL4
FBXO38
FDX2
FGD4
FGFR2
FHL1
FIG4
FKBP10
FKBP14
FKRP
FKTN
FLAD1
FLNB
FLNC
FOXP3
FOXRED1
FUS
FXN
GAA
GALC
GAN
GARS1
GBA1
GBE1
GCDH
GDAP1
GFAP
GFER
GFM1
GFPT1
GJB1
GLA
GLDC
GLE1
GLRA1
GLRB
GMPPB
GNB4
GNE
GOSR2
GSN
GTPBP3
GYG1
HADH
HADHA
HADHB
HARS1
HARS2
HEXA
HIBCH
HINT1
HK1
HMBS
HNRNPA1
HNRNPA2B1
HNRNPDL
HNRNPU
HRAS
HSPB1
HSPB3
HSPB8
HSPG2
HYCC1
IARS2
IBA57
IFRD1
IGHMBP2
INF2
ISCA2
ISCU
ITGA7
JPH1
KARS1
KBTBD13
KCNE3
KCNJ2
KIF1A
KIF21A
KIF5A
KLHL13
KLHL40
KLHL41
KY
LAMA2
LAMB2
LAMP2
LARGE1
LARS1
LARS2
LAS1L
LDB3
LIAS
LIMS2
LITAF
LMNA
LMOD3
LONP1
LPIN1
LRIF1
LRP4
LRPPRC
LRSAM1
LYRM7
MAGEL2
MARS1
MARS2
MATR3
MCM3AP
MED25
MEGF10
MFN2
MGME1
MICU1
MORC2
MPV17
MPZ
MRPL44
MRPS16
MRPS22
MRPS7
MTFMT
MTM1
MTMR1
MTMR14
MTMR2
MTO1
MTPAP
MTRFR
MUSK
MYBPC1
MYF6
MYH14
MYH2
MYH3
MYH7
MYH8
MYO18B
MYO9A
MYOD1
MYOT
NAGLU
NALCN
NARS2
NBAS
NDRG1
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA13
NDUFA2
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFAF6
NDUFB11
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NEB
NEFL
NEK9
NFU1
NGF
NIPA1
NTRK1
NUBPL
OPA1
OPA3
OPTN
ORAI1
PABPN1
PANK2
PARS2
PC
PDGFB
PDHA1
PDHB
PDHX
PDK3
PDP1
PDSS1
PDSS2
PEX12
PFKM
PGK1
PGM1
PHGDH
PHOX2B
PIEZO2
PIP5K1C
PITRM1
PLEC
PLEKHG5
PLOD2
PLP1
PMP2
PMP22
PMPCA
PNPLA2
PNPT1
POLG
POLG2
POMGNT1
POMGNT2
POMK
POMT1
POMT2
POPDC1
PREPL
PRPS1
PRX
PTRH2
PUS1
PYCR2
PYGM
RAB7A
RAPSN
RARS2
RBCK1
REEP1
RETREG1
RIPK4
RMND1
RNASEH1
RRM2B
RXYLT1
RYR1
SACS
SARS2
SBDS
SBF1
SBF2
SCN10A
SCN11A
SCN4A
SCN9A
SCO1
SCO2
SDHA
SDHAF1
SDHAF2
SDHB
SDHC
SDHD
SELENON
SEPSECS
SEPTIN9
SERAC1
SETX
SGCA
SGCB
SGCD
SGCG
SH3TC2
SIGMAR1
SIL1
SLC12A6
SLC16A2
SLC19A2
SLC19A3
SLC22A5
SLC25A1
SLC25A12
SLC25A19
SLC25A20
SLC25A26
SLC25A3
SLC25A38
SLC25A4
SLC25A42
SLC25A46
SLC33A1
SLC35A3
SLC52A2
SLC52A3
SLC5A7
SLC6A5
SLC6A8
SMAD3
SMCHD1
SMN1
SNAP25
SOD1
SORT1
SPAST
SPEG
SPG11
SPG7
SPTLC1
SPTLC2
SPTLC3
SQSTM1
SRPK3
STAC3
STAT2
STIM1
SUCLA2
SUCLG1
SURF1
SYNE1
SYNE2
SYT2
TACO1
TAFAZZIN
TALDO1
TANGO2
TARDBP
TARS2
TBK1
TCAP
TDP1
TECPR2
TFG
TIA1
TIMM8A
TK2
TMEM126A
TMEM43
TMEM70
TNNI2
TNNT1
TNNT2
TNNT3
TNPO3
TNXB
TOR1AIP1
TPK1
TPM2
TPM3
TRAPPC11
TRIM2
TRIM32
TRIP4
TRIT1
TRMT5
TRMU
TRNT1
TRPA1
TRPV4
TSEN2
TSEN34
TSEN54
TSFM
TTC19
TTN
TTR
TUBA4A
TUBB2B
TUBB3
TUFM
TWNK
TXN2
TYMP
UBA1
UBQLN2
UQCRB
UQCRC2
UQCRQ
VAPB
VARS2
VCP
VIPAS39
VMA21
VPS33B
VRK1
WFS1
WNK1
XPNPEP3
XRCC4
YARS1
YARS2
ZBTB42
ZC4H2
ZMPSTE24
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