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PRNP

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen

Material 2-4 ml EDTA-Blut
OMIM 176640

Gen-Panel-Analysen, die PRNP enthalten

Ataxie – Manifestation im Erwachsenenalter (ohne Repeat-assoziierte Ataxieformen) ID 936.00 | >25kb

Gen Panel (153 Gene )

SACS
SCN1A
SCN8A
SLC1A3
SLC2A1
SLC9A6
SPG7
SPR
SPTBN2
SQSTM1
STUB1
SYNGAP1
BRF1
C10orf2
TERT
NKX2-1
TTPA
VLDLR
WFS1
WWOX
ROBO3
SAMD9L
AAAS
CA8
CACNA1A
CACNA1G
IRF2BPL
ELOVL4
NPC2
CAPN1
COG5
PUM1
CASK
SNX14
ABHD12
TOE1
APTX
DNAJC5
PNPLA6
ADCK3
MFN2
EXOSC8
SYNE1
GJC2
EXOSC3
PMPCA
CAMTA1
GBA2
TTBK2
NKX6-2
CLCN2
CYP2U1
TPP1
ARMC9
ZFYVE26
TUBA1A
CLN6
TUBB3
TUBB4A
SLC39A8
RARS2
NHLRC1
RNF216
CP
UBA5
VPS13D
ADCY5
PACS2
PTRH2
MMACHC
SIL1
FLVCR1
CSTB
MARS2
TMEM240
SLC25A46
RNF170
ANO10
DARS2
VPS53
CWF19L1
COA7
SRD5A3
WDR73
CYP27A1
WDR81
COX20
TSEN54
TSEN2
B3GALNT2
DDHD2
MSTO1
DNMT1
COASY
POLR3A
SLC52A2
PRRT2
DNAJC19
SEPSECS
TUBB2B
AFG3L2
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
EPM2A
ERCC4
FGF14
FOLR1
FXN
GFAP
GLRA1
GLRB
GOSR2
GPAA1
SETX
GRID2
GRM1
HEXA
HEXB
ITPR1
KCNA1
KCNA2
KCNC3
KCND3
KCNJ10
KCNQ2
KIF1C
ARSA
MRE11A
MT-ATP6
MTTP
ATCAY
NPC1
ATM
ATP1A2
ATP1A3
OPA1
OPA3
OPHN1
ATP7B
PEX16
PEX6
AUH
PLA2G6
PMPCB
EXOSC9
PNKD
PNKP
POLG
PRKCG
PRNP
Bewegungsstörungen - Gesamtpanel ID 233.04 | >25kb

Gen Panel (363 Gene )

RTN2
SACS
SCN1A
SCN2A
SCN8A
SGCE
SLC16A2
SLC1A3
SLC25A15
SLC2A1
SLC6A3
SLC9A6
KDM5C
SNAP25
SNCA
SOD1
BTD
SPG11
ATL1
SPAST
SPG7
SPR
SPTBN2
SQSTM1
STUB1
STXBP1
SUCLA2
SYNGAP1
SYNJ1
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
SLC2A10
VPS35
SAMD9L
ATP8A2
ERLIN2
FBXO7
FRRS1L
AAAS
CA8
CACNA1A
CACNA1B
CACNA1C
CACNA1G
CACNA2D2
ANO3
SLC5A7
CACNB4
IRF2BPL
ELOVL4
NPC2
WNK1
PINK1
CAPN1
COG5
PUM1
CASK
SNX14
DNAJC6
CHCHD10
BSCL2
KMT2B
ABHD12
PANK2
NOP56
PLCB1
TOE1
APTX
CCT5
SLC52A3
DNAJC5
TGM6
PNPLA6
PARK7
NLRP3
RAB39B
CIZ1
ADCK3
MFN2
DGAT2
ERLIN1
CLP1
EXOSC8
NIPA1
SYNE1
RAB3GAP2
BICD2
GJC2
ACY1
PDSS1
EXOSC3
REEP2
ARX
DEPDC5
SPG20
CPT1C
LRRK2
PMPCA
CAMTA1
IFIH1
GBA2
ADCK4
VPS13A
TTBK2
NKX6-2
LYST
COQ4
DDHD1
TECPR2
CLCN2
COQ6
SPG21
UPF3B
CYP2U1
TPP1
ARMC9
ZFYVE26
TUBA1A
CLN6
TUBB3
TUBB4A
CLN8
THAP1
SLC39A14
SLC39A8
AARS2
FA2H
PDHX
RARS2
NHLRC1
KLC4
RNF216
COL4A1
COL6A3
AP5Z1
COQ7
ADAR
CP
PDSS2
SYT14
UNC13A
CPS1
UBA5
VPS13C
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
DCAF17
REEP1
SRD5A3
WDR73
FAM134B
TTC19
CYP27A1
CYP7B1
HGSNAT
ZFYVE27
WDR81
C12orf65
COX20
DBT
DCTN1
IBA57
TSEN54
SLC6A19
TSEN2
B3GALNT2
DNAJC12
WDR45
DLAT
KIAA0196
RUBCN
ABCA1
DDHD2
TOR1AIP1
MSTO1
DNM2
DNMT1
COASY
PIK3R5
POLR3A
ATP13A2
SLC52A2
PRRT2
DNAJC19
SEPSECS
TUBB2B
TOR1A
AFG3L2
ECHS1
EEF2
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ENTPD1
PTRHD1
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
GRIN1
GRM1
GRN
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
MID1
ARSA
MRE11A
MT-ATP6
MTHFR
ASL
MTTP
ASS1
ATCAY
NOTCH3
NPC1
ATM
NRAS
ATP1A2
ATP1A3
NT5C2
OPA1
OPA3
OPHN1
OTC
PARK2
PAX2
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

Einzelgenanalyse

Assoziierte Erkrankung(en)