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NGS White matter disease

Panel name NGS White matter disease
Panel method WES-based NGS
Panel version ** v10
Panel quality ***
Core-NL No core-NL genes included
CNV analysis No
Note Coverage gegevens volgen nog.
Location Location AMC
Genes (197) Quality % coverage >30 % coverage >20 Core-NL Note
AARS1
AARS2
ABCD1
ADAR
AGPS
AIFM1
AIMP1
ALDH3A2
AMT
APP
ARSA
ASPA
ATAD3A
ATAD3B
ATN1
ATRN
ATRX
AUH
BCAP31
BCKDHA
BCKDHB
BOLA3
BPIFA2
C1R
CBS
CLCN2
CLPP
CNTNAP1
COA8
COL4A1
COL4A2
COX10
COX6B1
CSF1R
CST3
CTC1
CTSA
CYP27A1
D2HGDH
DARS1
DARS2
DBT
DEGS1
EARS2
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ELP1
EPRS1
ERCC2
ERCC3
ERCC6
ERCC8
FAH
FAM126A
FBXL4
FDX2
FIG4
FOLR1
FOXC1
FUCA1
GALC
GAN
GBE1
GCDH
GCSH
GFAP
GJA1
GJB1
GJC2
GLA
GLB1
GLDC
GLRX5
GM2A
GNPAT
GSN
GTF2H5
HEPACAM
HEXA
HEXB
HIKESHI
HMBS
HMGCL
HSPD1
HTRA1
IBA57
IDH1
IDH2
IFIH1
ISCA1
ISCA2
ISCU
ITM2B
KARS1
L2HGDH
LAMA2
LAMB1
LARS2
LIAS
LMBRD1
LMNB1
LSM11
LYRM7
MAT1A
MLC1
MMACHC
MMADHC
MOG
MTFMT
MTHFR
MTR
MTRR
MYRF
NDUFA2
NDUFAF3
NDUFS1
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NFU1
NKX6-2
NOTCH1
NOTCH3
NUBPL
PCCA
PCCB
PEX1
PEX10
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PHGDH
PHYH
PI4KA
PITX2
PLP1
POLR1A
POLR1C
POLR3A
POLR3B
POLR3D
POLR3K
PSAP
PSAT1
RARS1
RARS2
RMND1
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RPIA
SAMD9
SAMD9L
SAMHD1
SCO2
SDHA
SDHAF1
SDHB
SLC16A2
SLC17A5
SLC19A3
SLC1A4
SLC25A1
SLC25A12
SNORD118
SOX10
SPTAN1
SUMF1
SURF1
TMEM106B
TMEM63A
TREM2
TREX1
TTR
TUBB4A
TYMP
TYROBP
UBA5
UFM1
VPS11
ZNF335
Indication(s)
White Matter Disorders

** 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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