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CHST14

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen
Material 2-4 ml EDTA-Blut
OMIM 608429

Gen-Panel-Analysen, die CHST14 enthalten

Fetale Akinesie / Arthrogryposis Multiplex Congenita (AMC) ID 078.03 | >25kb

Gen Panel (189 Gene )

RYR1
BIN1
SCN4A
AIMP1
SGCA
SGCB
SGCD
SGCG
SLC22A5
SLC25A1
SLC35A3
SNAP25
SYT2
TCAP
TGFBR2
TK2
TNNI2
TNNT1
TNNT3
TPM2
TPM3
TRIP4
MYOT
TTN
TUBB2A
UBA1
VPS33B
ZMPSTE24
ACTA1
ACTB
LPIN1
TMEM5
ADGRG6
CCDC78
ACTG1
CAPN3
DNAJB6
CAV3
TSEN34
B4GAT1
LDB3
GDAP1
SEPN1
SLC52A3
TRIM32
MFN2
SPEG
KLHL41
SYNE2
SYNE1
BICD2
RRM2B
EXOSC3
FKRP
TRPV4
FKBP10
NEK9
FKBP14
CFL2
NALCN
CHAT
POMGNT1
CHKB
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
POMT2
VIPAS39
SLC25A26
ABHD5
CNTN1
COL13A1
VMA21
COL6A1
COL6A2
COL6A3
FAM20C
COLQ
GMPPB
ALG2
CPT2
GNE
ADCY6
CRYAB
ASCC1
CHST14
SIL1
ZC4H2
CTDP1
CUL4B
LAS1L
POMGNT2
POMK
PIEZO2
DOK7
IBA57
ANO5
TSEN54
DES
ALG14
TSEN2
TMEM43
B3GALNT2
ADSL
DMD
DYNC1H1
DYNC2H1
MEGF10
DNM2
ISCU
DPAGT1
DPM2
KLHL40
SEPSECS
PNPLA2
TUBB2B
DYSF
TOR1A
ECEL1
AGL
EGR2
ZBTB42
AGRN
EMD
ERBB3
ERCC6
ETFA
ETFB
ETFDH
FBN2
FKTN
FGFR2
FHL1
KBTBD13
ISPD
FLNB
FLNC
GAA
GARS
GBA
GBE1
GFPT1
GLE1
HADH
HADHA
HADHB
RIPK4
HRAS
HSPG2
IGHMBP2
FOXP3
ITGA7
LAMA2
LAMB2
LAMP2
LARGE1
LMNA
LMOD3
MAGEL2
MATR3
MPZ
MTM1
MTMR1
MUSK
MYBPC1
MYH2
MYH3
MYH7
MYH8
MYO9A
MYOD1
NEB
NEFL
CNTNAP1
PFKM
ACADM
PHGDH
PIP5K1C
ACADS
PLEC
PLOD2
POLG
ACADVL
POMT1
BAG3
PYGM
RAPSN
Fetale Akinesie / Arthrogryposis Multiplex Congenita (AMC) ID 078.03 | >25kb

Gen Panel (189 Gene )

RYR1
BIN1
SCN4A
AIMP1
SGCA
SGCB
SGCD
SGCG
SLC22A5
SLC25A1
SLC35A3
SNAP25
SYT2
TCAP
TGFBR2
TK2
TNNI2
TNNT1
TNNT3
TPM2
TPM3
TRIP4
MYOT
TTN
TUBB2A
UBA1
VPS33B
ZMPSTE24
ACTA1
ACTB
LPIN1
TMEM5
ADGRG6
CCDC78
ACTG1
CAPN3
DNAJB6
CAV3
TSEN34
B4GAT1
LDB3
GDAP1
SEPN1
SLC52A3
TRIM32
MFN2
SPEG
KLHL41
SYNE2
SYNE1
BICD2
RRM2B
EXOSC3
FKRP
TRPV4
FKBP10
NEK9
FKBP14
CFL2
NALCN
CHAT
POMGNT1
CHKB
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
POMT2
VIPAS39
SLC25A26
ABHD5
CNTN1
COL13A1
VMA21
COL6A1
COL6A2
COL6A3
FAM20C
COLQ
GMPPB
ALG2
CPT2
GNE
ADCY6
CRYAB
ASCC1
CHST14
SIL1
ZC4H2
CTDP1
CUL4B
LAS1L
POMGNT2
POMK
PIEZO2
DOK7
IBA57
ANO5
TSEN54
DES
ALG14
TSEN2
TMEM43
B3GALNT2
ADSL
DMD
DYNC1H1
DYNC2H1
MEGF10
DNM2
ISCU
DPAGT1
DPM2
KLHL40
SEPSECS
PNPLA2
TUBB2B
DYSF
TOR1A
ECEL1
AGL
EGR2
ZBTB42
AGRN
EMD
ERBB3
ERCC6
ETFA
ETFB
ETFDH
FBN2
FKTN
FGFR2
FHL1
KBTBD13
ISPD
FLNB
FLNC
GAA
GARS
GBA
GBE1
GFPT1
GLE1
HADH
HADHA
HADHB
RIPK4
HRAS
HSPG2
IGHMBP2
FOXP3
ITGA7
LAMA2
LAMB2
LAMP2
LARGE1
LMNA
LMOD3
MAGEL2
MATR3
MPZ
MTM1
MTMR1
MUSK
MYBPC1
MYH2
MYH3
MYH7
MYH8
MYO9A
MYOD1
NEB
NEFL
CNTNAP1
PFKM
ACADM
PHGDH
PIP5K1C
ACADS
PLEC
PLOD2
POLG
ACADVL
POMT1
BAG3
PYGM
RAPSN
Gefäß- und Bindegewebserkrankungen - Gesamtpanel ID 175.05 | >25kb

Gen Panel (165 Gene )

BGN
BMPR1B
BMPR2
SKI
SLC19A2
TBX4
TEK
TGFB2
TGFB3
TGFBR1
TGFBR2
TNXB
TREX1
ACP5
TTR
C1R
ACTA2
SLC2A10
ADAMTS13
CACNA1A
CACNA1C
RNF213
CAV1
SHOC2
CBS
JAM3
LRPPRC
KRIT1
SAMHD1
PCNT
MRM2
NLRP3
MFN2
CD59
LARS2
ACVRL1
B3GALT6
CECR1
COG6
FKBP14
DOCK8
HMCN1
EIF2AK4
ADAMTSL4
SLC39A13
ACAD9
CCM2
ADAMTS2
COL1A1
COL1A2
COL3A1
COL4A1
COL4A2
COL5A1
COL5A2
LMBRD1
ZNF469
CPS1
BRCC3
CISD2
CSF1R
CHST14
MMACHC
KANSL1
CST3
COQ2
THSD4
CYP11B1
CYP11B2
CTC1
COLGALT1
ESCO2
RBM20
DLD
ABCA1
FASTKD2
MFAP5
DPAGT1
DPM3
DYRK1B
NBEAL2
EFEMP2
ENG
ENPP1
EPHB4
AGXT
ERCC6
F10
F13A1
F2
F5
F7
FBN1
FGA
FGB
FGG
FLNA
FOXC1
FOXE3
GAA
GANAB
GATA3
GCDH
GGCX
GJA1
GLA
AMACR
HBB
HRAS
HSD11B2
ABCC6
ITM2B
IVD
JAG1
JAK2
APP
KCNK3
KNG1
LMAN1
LMNA
LOX
SMAD3
SMAD4
SMAD9
MAP2K1
MAT2A
MCCC1
MEFV
MYH11
ASS1
MYLK
NDUFA8
SERPINC1
NF1
NOTCH1
NOTCH2
NOTCH3
PNP
OTC
SERPINE1
PCCA
PCCB
ATP7A
PDCD10
PDE3A
PDE4D
PKD1
PLAU
PLG
PLIN1
PLOD1
PLOD3
POLG
B4GALT1
CTSA
B4GALT7
PRDM5
PRKAR1A
PRKG1
PROC
PROS1
HTRA1
PTEN
PTPN11
RASA1

Einzelgenanalyse

Derzeit wird für dieses Gen keine Einzelgenanalyse, sondern eine Diagnostik im Rahmen einer Multi-Gen Panel-Analyse angeboten.

Assoziierte Erkrankung(en)