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MARS

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen

Material 2-4 ml EDTA-Blut
OMIM 156560

Gen-Panel-Analysen, die MARS enthalten

Bewegungsstörungen - Gesamtpanel ID 233.03 | >25kb

Gen Panel (335 Gene )

RTN2
SACS
SCN1A
SCN2A
SCN8A
SGCE
SLC16A2
SLC1A3
SLC25A15
SLC2A1
SLC6A3
SLC9A6
KDM5C
SNAP25
SNCA
BTD
SPG11
ATL1
SPAST
SPG7
SPR
SPTBN2
SQSTM1
STUB1
SUCLA2
SYNGAP1
SYT1
TAF1
BRF1
TBCD
C10orf2
TERT
TFG
TH
NKX2-1
TTPA
TTR
UBQLN2
UBTF
UCHL1
USP8
VAMP1
VCP
VLDLR
VRK1
WFS1
WWOX
XK
XRCC1
ROBO3
VPS35
SAMD9L
ATP8A2
ERLIN2
FBXO7
FRRS1L
AAAS
CA8
CACNA1A
CACNA1B
CACNA1C
CACNA1G
CACNA2D2
ANO3
CACNB4
IRF2BPL
ELOVL4
NPC2
PINK1
CAPN1
COG5
PUM1
CASK
SNX14
BSCL2
KMT2B
ABHD12
PANK2
NOP56
TOE1
APTX
CCT5
SLC52A3
DNAJC5
TGM6
PNPLA6
PARK7
NLRP3
CIZ1
ADCK3
MFN2
DGAT2
ERLIN1
CLP1
EXOSC8
NIPA1
SYNE1
RAB3GAP2
BICD2
GJC2
ACY1
PDSS1
EXOSC3
REEP2
SPG20
CPT1C
LRRK2
PMPCA
CAMTA1
IFIH1
GBA2
ADCK4
VPS13A
TTBK2
NKX6-2
LYST
COQ4
DDHD1
TECPR2
CLCN2
COQ6
SPG21
CYP2U1
TPP1
ARMC9
ZFYVE26
TUBA1A
CLN6
TUBB3
TUBB4A
CLN8
THAP1
SLC39A14
SLC39A8
FA2H
PDHX
RARS2
NHLRC1
KLC4
RNF216
COL6A3
AP5Z1
COQ7
ADAR
CP
PDSS2
SYT14
UNC13A
CPS1
UBA5
VPS13D
ADCY5
PACS2
PTRH2
TACO1
CSF1R
MMACHC
SIL1
FLVCR1
CSTB
VPS37A
MARS2
TMEM240
SLC25A46
COQ2
COQ9
SLC30A10
RNF170
C19orf12
VAC14
ANO10
MTPAP
DARS2
VPS53
CWF19L1
RNASEH2B
KCTD17
PGAP1
COA7
REEP1
SRD5A3
WDR73
FAM134B
TTC19
CYP27A1
CYP7B1
ZFYVE27
WDR81
C12orf65
COX20
DBT
IBA57
TSEN54
SLC6A19
TSEN2
B3GALNT2
DNAJC12
DLAT
KIAA0196
RUBCN
ABCA1
DDHD2
TOR1AIP1
MSTO1
DNM2
DNMT1
COASY
PIK3R5
POLR3A
ATP13A2
SLC52A2
PRRT2
DNAJC19
SEPSECS
TUBB2B
TOR1A
AFG3L2
EEF2
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ENTPD1
EPM2A
ERCC4
ETFA
ETFB
ETFDH
FGF14
FMR1
FOLR1
FXN
FTL
GAD1
GALC
B4GALNT1
GAN
GBA
GBE1
GCDH
GCH1
GFAP
GLRA1
GLRB
GNAL
GNAO1
GNB1
ALS2
GOSR2
GPAA1
SETX
AMACR
GPR88
GRID2
GRM1
AMPD2
ABCB7
HEXA
HEXB
HPCA
HSD17B4
HSPD1
AP1S2
AP4B1
AP4E1
AP4M1
AP4S1
APOB
ABCD1
ITPR1
IVD
KCNA1
KCNA2
KCNA4
KCNC3
KCND3
KCNJ10
KCNMA1
KCNQ2
KIF1C
KIF5A
L1CAM
ARG1
MAG
MARS
ARL6IP1
ARSA
MRE11A
MT-ATP6
MTHFR
ASL
MTTP
ASS1
ATCAY
NPC1
ATM
ATP1A2
ATP1A3
NT5C2
OPA1
OPA3
OPHN1
OTC
PARK2
PAX6
ATP7B
CHMP1A
PDE2A
PDE8B
PDHA1
PDYN
PEX16
PEX6
PEX7
KIF1A
AUH
PHYH
PLA2G6
PLP1
PMPCB
EXOSC9
PNKD
PNKP
PODXL
POLG
PPP2R2B
PRKCG
PRKRA
PRNP
SLC33A1
ALDH18A1
BCKDHA
BCKDHB
RELN
Geistige Behinderung - behandelbar ID 922.00 | >25kb

Gen Panel (140 Gene )

SARS
SLC18A2
SLC25A12
SLC25A13
SLC25A15
SLC2A1
SLC35A2
SLC5A6
SLC6A8
BTD
SPR
TAT
TCN2
TH
CA5A
CAD
SLC25A19
NPC2
CBS
SLC19A3
ADCK3
BCKDK
TPK1
FARSB
NAGS
TMLHE
NAXE
PIGM
MMAA
PSAT1
MMAB
SLC35C1
TPP1
SLC39A8
PDHX
ACAD9
CP
LMBRD1
PIGO
CPS1
ETHE1
MMACHC
MMADHC
CYP27A1
DBT
DDC
MFSD8
DHCR7
DHFR
COQ5
DNAJC12
DLAT
DLD
PNPO
SLC46A1
ECHS1
AGA
AHCY
ETFA
ETFB
ETFDH
FOLR1
FUCA1
ALDH5A1
GAMT
GATM
GCDH
GCH1
GLDC
GLUL
GOT2
GRIN1
GRIN2A
GRIN2B
GRIN2D
GUSB
AMT
HIBCH
HLCS
HMGCL
HMGCS2
IARS
IDS
IDUA
AP1S1
ABCC8
ABCD1
IVD
KCNJ11
LARS
ARG1
ABCD4
MAN2B1
MARS
ARSA
MOCS1
MT-CO1
MT-CO2
MT-CO3
MTHFR
MTHFS
MT-ND1
MT-ND4
ASL
MT-ND5
MT-ND6
MTR
MTRR
MT-TF
MT-TH
MT-TL1
MT-TQ
MT-TS1
MT-TS2
MT-TW
MUT
ASS1
NFE2L2
NPC1
OTC
PAH
PCCA
PCCB
ATP7A
ATP7B
ALDH7A1
PDHA1
PDHB
PHGDH
PIGA
PMM2
PDP1
ACAT1
PROSC
PRPS1
PSPH
PTS
QDPR
BCKDHA
BCKDHB
Geistige Behinderung - behandelbar ID 922.00 | >25kb

Gen Panel (140 Gene )

SARS
SLC18A2
SLC25A12
SLC25A13
SLC25A15
SLC2A1
SLC35A2
SLC5A6
SLC6A8
BTD
SPR
TAT
TCN2
TH
CA5A
CAD
SLC25A19
NPC2
CBS
SLC19A3
ADCK3
BCKDK
TPK1
FARSB
NAGS
TMLHE
NAXE
PIGM
MMAA
PSAT1
MMAB
SLC35C1
TPP1
SLC39A8
PDHX
ACAD9
CP
LMBRD1
PIGO
CPS1
ETHE1
MMACHC
MMADHC
CYP27A1
DBT
DDC
MFSD8
DHCR7
DHFR
COQ5
DNAJC12
DLAT
DLD
PNPO
SLC46A1
ECHS1
AGA
AHCY
ETFA
ETFB
ETFDH
FOLR1
FUCA1
ALDH5A1
GAMT
GATM
GCDH
GCH1
GLDC
GLUL
GOT2
GRIN1
GRIN2A
GRIN2B
GRIN2D
GUSB
AMT
HIBCH
HLCS
HMGCL
HMGCS2
IARS
IDS
IDUA
AP1S1
ABCC8
ABCD1
IVD
KCNJ11
LARS
ARG1
ABCD4
MAN2B1
MARS
ARSA
MOCS1
MT-CO1
MT-CO2
MT-CO3
MTHFR
MTHFS
MT-ND1
MT-ND4
ASL
MT-ND5
MT-ND6
MTR
MTRR
MT-TF
MT-TH
MT-TL1
MT-TQ
MT-TS1
MT-TS2
MT-TW
MUT
ASS1
NFE2L2
NPC1
OTC
PAH
PCCA
PCCB
ATP7A
ATP7B
ALDH7A1
PDHA1
PDHB
PHGDH
PIGA
PMM2
PDP1
ACAT1
PROSC
PRPS1
PSPH
PTS
QDPR
BCKDHA
BCKDHB
Neuropathie, motorisch-sensibel / CMT1, CMT2, dHMN - umfassende Diagnostik ID 288.02 | >25kb

Gen Panel (117 Gene )

SACS
SBF1
SCN9A
SLC12A6
SORD
SPG11
ATL1
SPAST
SPTLC1
SPTLC2
SURF1
SYT2
TARDBP
TFG
TNNT2
TTR
VAPB
VCP
YARS
PRX
SLC5A7
ARHGEF10
CHCHD10
BSCL2
NDUFAF5
GDAP1
TRIM2
SLC52A3
LITAF
FIG4
MFN2
DGAT2
NIPA1
OPTN
BICD2
TRPV4
TDP1
FGD4
AARS
GNB4
TUBB3
SBF2
COX10
COX6A1
KLHL13
MYH14
DHTKD1
MORC2
INF2
FAM126A
SIL1
DCAF8
CTDP1
LRSAM1
SLC25A46
REEP1
CYP27A1
C12orf65
DCTN1
FBXO38
MED25
ABCA1
PLEKHG5
SH3TC2
DYNC1H1
DNM2
HSPB8
SLC52A2
TYMP
EGR2
FBLN5
FXN
FUS
GALC
GAN
GARS
GJB1
GLA
ALS2
SETX
GSN
HADHA
HADHB
HARS
ANG
HINT1
HK1
DNAJB2
HSPB1
HSPB3
IFRD1
IGHMBP2
IKBKAP
KARS
KIF5A
LMNA
SMAD3
MARS
MPV17
MPZ
SEPT9
MTMR2
NAGLU
NDRG1
NEFL
SIGMAR1
ATP7A
AIFM1
PDHA1
PDK3
PEX12
PLP1
PMP22
POLG
BAG3
PRPS1
RAB7A
Neuropathie/Motoneuropathie - Gesamtpanel ID 086.05 | >25kb

Gen Panel (279 Gene )

RYR1
SACS
BIN1
SBF1
SCN10A
SCN11A
SCN4A
SCN9A
SGCA
SGCB
SGCD
SGCG
DST
SLC12A6
SLC16A2
SLC25A1
SMN1
SNAP25
SOD1
SORD
SPG11
ATL1
SPAST
SPTLC1
SPTLC2
SQSTM1
STIM1
SURF1
SYT2
TARDBP
TBK1
TCAP
TFG
TIA1
TK2
TNNT1
TNNT2
TNNT3
TNXB
TPM2
TPM3
TRIP4
TTN
TTR
TUBA4A
UBA1
UBQLN2
VAPB
VCP
VRK1
YARS
ACTA1
TMEM5
AAAS
PRX
SLC5A7
ARHGEF10
CCDC78
SLC25A21
WNK1
CAPN3
DNAJB5
CASQ1
MICU1
CHCHD10
B4GAT1
BSCL2
RBCK1
ABHD12
NDUFAF5
GDAP1
TRIM2
SEPN1
LIMS2
CCT5
SLC52A3
SPTLC3
TRIM32
LITAF
FIG4
MFN2
CD59
DGAT2
ERLIN1
CLP1
EXOSC8
NIPA1
SYNE1
TNPO3
OPTN
BICD2
CLCF1
EXOSC3
FKRP
TRPV4
MYO18B
FKBP14
CFL2
TDP1
CHAT
FGD4
POMGNT1
CHKB
SBDS
CHRNA1
CHRNB1
CHRND
CHRNE
POMT2
TECPR2
AARS
SLC25A26
GNB4
TUBB3
SBF2
CNTN1
COL12A1
COL13A1
VMA21
COL6A1
COL6A2
COL6A3
COLQ
ADAR
COX10
COX6A1
KLHL13
GMPPB
UNC13A
ALG2
MYH14
DOLK
DHTKD1
MORC2
CRLF1
INF2
ASCC1
ATL3
CHMP2B
FAM126A
SIL1
DCAF8
CTDP1
LRSAM1
SLC25A46
LAS1L
TRAPPC11
REEP1
ORAI1
POMGNT2
FAM134B
CYP27A1
POMK
PIEZO2
KY
DOK7
DAG1
C12orf65
DCTN1
ANO5
DES
ALG14
B3GALNT2
FBXO38
MED25
ABCA1
PLEKHG5
DMD
EPG5
SH3TC2
TOR1AIP1
DYNC1H1
MEGF10
DNM2
DNMT1
DPAGT1
DPM1
DPM2
DPM3
HSPB8
SLC52A2
PREPL
DRP2
KLHL40
DYSF
TYMP
EGR2
AGRN
EMD
FBLN5
FKTN
FHL1
KBTBD13
ISPD
FXN
FUS
GAA
GALC
GAN
GARS
GBA
GBE1
GFPT1
GJB1
GLA
ALS2
SETX
AMACR
GSN
GYG1
HADHA
HADHB
HARS
ANG
HEXA
HINT1
HK1
TRPA1
HMBS
HNRNPA1
HNRNPA2B1
HNRNPDL
DNAJB2
HSPB1
HSPB3
ANXA11
IFRD1
IGHMBP2
IKBKAP
ITGA7
KARS
KIF5A
LAMA2
LAMB2
LAMP2
LARGE1
LMNA
LMOD3
LRP4
SMAD3
MARS
MATR3
MCM3AP
MME
MPV17
MPZ
SEPT9
ASAH1
MTM1
MTMR2
MUSK
MYH7
MYO9A
NAGLU
NDRG1
NEB
NEFH
NEFL
NGF
ATM
NTRK1
SIGMAR1
ATP7A
AIFM1
PDHA1
PDK3
PEX12
KIF1A
PLEC
PLP1
PMP2
PMP22
POLG
POMT1
BAG3
PRPS1
PTRF
RAB7A
RAPSN

Einzelgenanalyse

Assoziierte Erkrankung(en)