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VIPAS39

Methodik Next Generation Sequencing (NGS)

Parallele Sequenzierung mehrerer Gene


Dauer 3-6 Wochen
Material 2-4 ml EDTA-Blut
OMIM 613401

Gen-Panel-Analysen, die VIPAS39 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
Nierenerkrankungen und Elektrolyte - Gesamtpanel ID 222.05 | >25kb

Gen Panel (211 Gene )

ROBO2
ROR2
SALL1
BLK
SCNN1A
SCNN1B
SCNN1G
BMP4
BMP7
SGPL1
SIX1
SIX5
SLC12A1
SLC12A3
SLC34A1
SLC3A1
SLC4A1
SLC4A9
SLC7A9
SMARCAL1
STAR
TBC1D1
TBX18
CEP55
HNF1A
HNF1B
TFAP2A
KLF11
TRPC6
TSC1
TSC2
UMOD
KDM6A
VHL
VPS33B
WNT4
WT1
XDH
ZIC3
ZMYM2
NPHS2
SLC2A9
PLVAP
CA2
CACNA1D
CACNA1H
ANLN
CD2AP
ACTG2
WNK1
WNK4
AMN
DNAJB11
CASR
TRIM8
ALG9
MYOCD
TP53RK
TRAP1
CD151
WBP11
BSND
ACTN4
SCARB2
PLCE1
SLC22A12
NUP133
OSGEP
SOX17
DAAM2
MOCOS
HPSE2
CEL
CRB2
GRIP1
MAGI2
ADCK4
CHD1L
FRAS1
BICC1
CHRM3
CHRNA3
TNS2
TMEM260
CLCN2
CLCN5
COQ6
CLCNKA
ALG5
CLCNKB
SLC34A3
VIPAS39
C14orf142
CLDN16
CLDN19
CHD7
LRIG2
SEC63
RFX6
COL4A3
COL4A4
COL4A5
FAM20A
PDSS2
ALG8
FREM1
INF2
APPL1
TPRKB
TBC1D8B
HOGA1
COQ2
COQ9
FREM2
CUBN
CUL3
OFD1
CYP11B1
CYP11B2
WDR73
CYP17A1
CYP24A1
LAGE3
DZIP1L
ACE
CTU2
DGKE
DHCR7
NIPBL
YRDC
NUP93
DLC1
DSTYK
IFT140
NADSYN1
NUP107
STRADA
STRA6
BNC2
GREB1L
AGT
EMP2
AGTR1
AGXT
EYA1
FAT1
FGF20
FN1
GANAB
GATA3
GCK
GLA
GLI3
ALPL
GPC3
GRHPR
HAAO
HNF4A
HOXA13
HPRT1
HSD3B2
ABCC8
INS
PDX1
APOE
ITGA3
ITGA8
APOL1
ITSN1
JAG1
ANOS1
KCNJ1
KCNJ10
KCNJ11
APRT
KCNJ5
KLHL3
KYNU
LAMB2
LCAT
LIFR
LMX1B
LRP4
LRP5
ARHGDIA
KMT2D
MUC1
MYH9
MYO1E
NEUROD1
NOTCH2
NPHP3
NPHS1
NR3C2
OCRL
ATP6V1B1
PAX2
PAX4
PBX1
ATP6V0A4
NUP85
PHEX
PKD1
PKD2
PKHD1
PODXL
POR
PRKCSH
PTPRO
REN
RET

Einzelgenanalyse

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

Assoziierte Erkrankung(en)