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NGS Fetal akinesia deformation sequence FADS

Panel name NGS Fetal akinesia deformation sequence FADS
Panel method WES-based NGS
Panel version ** v6
Panel quality ***
Core-NL No core-NL genes included
CNV analysis No
Note Coverage gegevens volgen nog.
Location Location AMC
Genes (194) Quality % coverage >30 % coverage >20 Core-NL Note
ACTA1
ACVR1
ADCY6
ADGRG6
AGL
AGRN
ALG3
AMER1
ANO5
ASCC1
ATP1A3
ATP2A1
ATP7A
B3GALNT2
B4GAT1
BAG3
BICD2
BIN1
CACNA1S
CACNB2
CAPN3
CASQ1
CAV3
CAVIN1
CCDC78
CFL2
CHAT
CHCHD10
CHKB
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
CHST14
CLCN1
CNTN1
CNTNAP1
COL12A1
COL13A1
COL6A1
COL6A2
COL6A3
COLQ
CPT2
CRPPA
CRYAB
DAG1
DENND5A
DES
DHCR24
DMD
DMPK
DNA2
DNAJB6
DNM2
DNM3
DOK7
DPAGT1
DPM1
DPM2
DPM3
DYNC1H1
DYSF
ECEL1
EGR2
EMD
ENO3
ERBB3
ERCC5
ERCC6
EXOSC8
FAM111B
FAM20C
FBN2
FGFR2
FHL1
FKBP14
FKRP
FKTN
FLNC
FOXP3
GAA
GBA
GBE1
GFPT1
GLDN
GLE1
GNE
GYS1
HNRNPH1
HSPG2
IGHMBP2
IRF6
ISCU
ITGA7
KBTBD13
KCNJ2
KLHL40
KLHL41
KLHL9
LAMA2
LAMB2
LAMP2
LARGE1
LDB3
LDHA
LMNA
LMOD3
LPIN1
MAGEL2
MATR3
MEGF10
MICU1
MPZ
MSTN
MTM1
MTMR14
MUSK
MYBPC1
MYBPC2
MYF6
MYH2
MYH3
MYH7
MYH8
MYOD1
MYOT
NEB
NEK9
ORAI1
PABPN1
PDHA1
PFKM
PGAM2
PGK1
PGM1
PHKA1
PIGH
PIP5K1C
PLEC
PNPLA2
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PRPS1
PYGM
RAC1
RAPSN
RBCK1
RHEB
RIPK4
RRM2B
RXYLT1
RYR1
SCN4A
SELENON
SGCA
SGCB
SGCD
SGCG
SLC52A2
SLC52A3
SMCHD1
SMN1
SPEG
STIM1
STX1B
SYNE1
TANGO2
TCAP
TNNI2
TNNT1
TNNT3
TNPO3
TPM2
TPM3
TRAPPC11
TRIM32
TRIP4
TRPV4
TTC19
TTN
UBA1
UTRN
VAMP2
VCP
VIPAS39
VMA21
VPS33B
VRK1
ZBTB33
Indication(s)
Fetal akinesia

** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory

*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C


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