Voor informatie omtrent aanvullende testen bij onze genpanels verwijzen wij u graag naar ons aanvraagformulier.

Aanvraagformulier

Bloed- en vaataandoeningen

Beenmergfalen BMF01v22.1

120 genen

Genpanel dekking 15X: 100 %
BMF01v22.1
10-04-2024
Archief
ABCB7
ABCD4
ABCG5
ABCG8
ACBD5
ACD
ACKR1
AK2
AMN
ANKRD26
AP3B1
ATR
BRCA2
BRIP1
C6orf25
CD40LG
CECR1
CLCN7
CLPB
CSF3R
CTC1
CTLA4
CUBN
CXCR4
CYCS
DDX41
DHFR
DKC1
DNAJC21
EFTUD1
EIF2AK3
ELANE
ERCC4
ERCC6L2
ETV6
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FYB
G6PC3
GATA1
GATA2
GBA
GFI1
GP1BA
GP1BB
GP9
GRHL2
HAX1
HOXA11
IVD
JAGN1
KLF1
LIG4
LYST
MASTL
MECOM
MPL
MTR
MTRR
MYH9
MYSM1
NBEAL2
NHEJ1
NHP2
NOP10
OBFC1
OSTM1
PALB2
PARN
PLEKHM1
PRF1
RAB27A
RAC2
RBM8A
RPL11
RPL35A
RPL5
RPS10
RPS19
RPS24
RPS26
RPS29
RPS7
RTEL1
RUNX1
SAMD9
SAMD9L
SBDS
SH2D1A
SLC19A2
SLC25A38
SLC46A1
SLX4
SRC
SRP72
STIM1
STK4
TAZ
TBXAS1
TCIRG1
TCN2
TERT
THPO
TINF2
TNFRSF11A
TNFSF11
TUBB1
UBE2T
USB1
VPS13B
VPS45
WAS
WRAP53

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Congenitale secundaire erythrocytose EMS01v21.1

16 genen

Genpanel dekking 15X: 99.8 %
EMS01v21.1
10-04-2024
Archief
BPGM
CYB5R3
EGLN1
EGLN2
EPAS1
EPO
EPOR
HBA1
HBA2
HBB
HIF3A
OS9
PIEZO1
PKLR
SH2B3
VHL

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Diamond-Blackfan anemie DBA01v22.1

35 genen

Genpanel dekking 15X: 95.9 %
DBA01v22.1
10-04-2024
Archief
EPO
GATA1
HEATR3
RPL10
RPL10A
RPL11
RPL15
RPL17
RPL18
RPL19
RPL26
RPL27
RPL3
RPL31
RPL34
RPL35
RPL35A
RPL5
RPL8
RPL9
RPLP0
RPS10
RPS11
RPS14
RPS15A
RPS17
RPS19
RPS20
RPS24
RPS26
RPS27
RPS28
RPS29
RPS7
TSR2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

G6PD deficientie G6PDv23.1

1 genen

Genpanel dekking 15X: 100 %
G6PDv23.1
10-04-2024
G6PD

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Hemofilie A, (HEMA) HEMAv23.1

1 genen

Genpanel dekking 15X: 100 %
HEMAv23.1
10-04-2024
F8

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Hereditaire hemolytische anemie EMS00v17.1

46 genen

Genpanel dekking 15X: 100 %
EMS00v17.1
10-04-2024
ABCB6
ABCG5
ABCG8
ADA
AK1
ALAS2
ALDOA
ANK1
ATP11C
C15orf41
CD59
CDAN1
COL4A1
CYB5R3
EPB41
EPB42
G6PD
GATA1
GCLC
GPI
GPX1
GSR
GSS
HBA1
HBA2
HBB
HK1
KCNN4
KIF23
KLF1
NT5C3A
PFKM
PGD
PGK1
PGLS
PIEZO1
PKLR
RHAG
SEC23B
SLC2A1
SLC4A1
SPTA1
SPTB
TALDO1
TPI1
XK

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Primaire hemostase defecten TRO02v22.1

100 genen

Genpanel dekking 15X: 99.9 %
TRO02v22.1
10-04-2024
Archief
ABCG5
ABCG8
ACTN1
ACVRL1
ADRA2A
ADRA2B
ANKRD26
ANO6
AP3B1
APOLD1
BLOC1S3
BLOC1S5
BLOC1S6
CD36
CDC42
COL1A1
COL3A1
COL5A1
COL5A2
CYCS
DIAPH1
DTNBP1
ENG
EPHB2
ETV6
F2R
F2RL3
FBN1
FERMT3
FGA
FGB
FGG
FLI1
FLNA
FYB
GALE
GATA1
GATA2
GBA
GFI1B
GNA12
GNA13
GNAI1
GNAI2
GNAQ
GNAS
GNAZ
GNE
GP1BA
GP1BB
GP6
GP9
HOXA11
HPS1
HPS3
HPS4
HPS5
HPS6
IKZF5
ITGA2
ITGA2B
ITGB1
ITGB3
LYST
MASTL
MECOM
MLPH
MPL
MYH9
MYO5A
NBEAL2
P2RX1
P2RY1
P2RY12
PLA2G4A
PLAU
PLCB2
PLCB3
PLCG2
PRKACG
PTGS1
PTPRJ
RAB27A
RASGRP2
RBM8A
RGS2
RUNX1
SLFN14
SMPD1
SRC
STIM1
TBXA2R
TBXAS1
THPO
TPM4
TUBB1
VIPAS39
VPS33B
VWF
WAS

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Rendu Osler Weber syndroom ROW01v22.1

4 genen

Genpanel dekking 15X: 100 %
ROW01v22.1
10-04-2024
ACVRL1
ENG
GDF2
SMAD4

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Von Willebrand Factor VWFv23.1

1 genen

Genpanel dekking 15X: 99.9 %
VWFv23.1
10-04-2024
VWF

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Ziekte van Von Willebrand, VWF TRO03v18.1

1 genen

Genpanel dekking 15X: 99.9 %
TRO03v18.1
10-04-2024
VWF

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Cardiogenetica

Aangeboren hartafwijkingen CAR05v19.1

55 genen

Genpanel dekking 15X: 99.6 %
CAR05v19.1
10-04-2024
Archief
ACTC1
ACVR2B
ALMS1
BRAF
CBL
CCDC11
CFC1
CHD7
CITED2
CRELD1
ELN
FOXH1
GATA4
GATA5
GATA6
GDF1
GJA1
GJC1
HAND1
HAND2
HRAS
JAG1
KRAS
LDB3
LEFTY2
MAP2K1
MAP2K2
MED13L
MMP21
MYBPC3
MYH11
MYH6
MYH7
NKX2-5
NKX2-6
NODAL
NOTCH1
NOTCH2
NR2F2
NRAS
PKD1L1
PTPN11
RAF1
SHOC2
SMAD6
SOS1
TAB2
TAZ
TBX1
TBX20
TBX5
TFAP2B
TLL1
ZFPM2
ZIC3

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Alveolaire capillaire dysplasie met misalignment van FOXF1 de pulmonaire venen FOXF1v23.1

1 genen

Genpanel dekking 15X: 100 %
FOXF1v23.1
10-04-2024
FOXF1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Brugada syndroom SCN5Av23.1

1 genen

Genpanel dekking 15X: 100 %
SCN5Av23.1
10-04-2024
SCN5A

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Cardio-myopathie CAR01v21.1

42 genen

Genpanel dekking 15X: 100 %
CAR01v21.1
10-04-2024
Archief
ACTC1
ACTN2
ALPK3
BAG3
CRYAB
CSRP3
DES
DMD
DSC2
DSG2
DSP
FHL1
FLNC
GLA
HCN4
JPH2
JUP
LAMP2
LMNA
MIB1
MYBPC3
MYH7
MYL2
MYL3
NEXN
PKP2
PLN
PRDM16
PRKAG2
RBM20
RYR2
SCN5A
TAZ
TCAP
TMEM43
TNNC1
TNNI3
TNNT2
TPM1
TTN
TTR
VCL

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Cardiovasculaire ziekten CAR00v16.1

211 genen

Genpanel dekking 15X: 99.5 %
CAR00v16.1
10-04-2024
ABCC9
ABRA
ACADVL
ACTA1
ACTA2
ACTC1
ACTN1
ACTN2
ACVR2B
AKAP13
AKAP9
ALMS1
ANK2
ANKRD1
ANKRD2
ATP2A2
BAG3
BCAR1
BMP10
BRAF
CACNA1C
CACNA2D1
CACNB2
CALR3
CAPN1
CAPN2
CAPN3
CAPNS1
CAPZA1
CAPZA2
CAPZB
CASQ2
CAV3
CBL
CBS
CFC1
CFL2
CHRM2
CMYA5
COL3A1
COL5A1
COL5A2
COX15
CRELD1
CRYAB
CSRP3
CTNNA3
DES
DICER1
DMD
DNAJB6
DNM1L
DSC2
DSG2
DSP
DTNA
ELN
EMD
EYA4
FBN1
FBN2
FBXL22
FERMT2
FHL1
FHL2
FKRP
FKTN
FLNC
FOXH1
GAA
GATA4
GATAD1
GDF1
GJA1
GJA5
GJC1
GLA
GLRX3
GPD1L
HCN4
HDAC1
HDAC2
HRAS
ILK
ITGB1BP2
JAG1
JPH2
JUP
KBTBD13
KCNE1
KCNE2
KCNE3
KCNH2
KCNJ2
KCNJ5
KCNJ8
KCNQ1
KRAS
LAMA4
LAMP2
LDB3
LEFTY2
LIMS1
LIMS2
LMCD1
LMNA
MAP2K1
MAP2K2
MIB1
MYBPC3
MYH11
MYH6
MYH7
MYH7B
MYL2
MYL3
MYL5
MYL7
MYLK
MYLK2
MYLK3
MYO6
MYOM1
MYOM2
MYOT
MYOZ1
MYOZ2
MYOZ3
MYPN
MYZAP
NEB
NEBL
NEURL2
NEXN
NKX2-5
NODAL
NOTCH1
NPPA
NRAP
NRAS
NRG1
OBSCN
OBSL1
PAK1
PALLD
PARVB
PDE5A
PDLIM1
PDLIM3
PDLIM5
PDLIM7
PKP2
PLN
POLR2M
PPP3CA
PPP3CB
PPP3R1
PRKAG2
PRKCE
PTPN11
RAF1
RBM20
RYR1
RYR2
SCN1B
SCN3B
SCN4B
SCN5A
SDHA
SGCD
SHOC2
SLC25A4
SLC2A10
SLC8A1
SMAD3
SMYD1
SMYD2
SNTA1
SOS1
SYNE1
SYNE2
SYNM
TAZ
TBX20
TBX5
TCAP
TGFB2
TGFB3
TGFBR1
TGFBR2
TMEM43
TMOD1
TMPO
TNNC1
TNNI3
TNNT1
TNNT2
TPM1
TPM2
TPM3
TRIM54
TRIM55
TRIM63
TTN
TTR
TXNRD2
UNC45B
VCL
XIRP1
XIRP2
ZIC3
BCOR

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Erfelijke hartritme-stoornissen CAR03v23.1

49 genen

Genpanel dekking 15X: 100 %
CAR03v23.1
10-04-2024
Archief
ABCC9
AKAP9
ANK2
CACNA1C
CACNA2D1
CACNB2
CALM1
CALM2
CALM3
CASQ2
CAV3
DES
DPP6
DSC2
DSG2
DSP
GJA5
GPD1L
HCN4
JUP
KCNA5
KCNE1
KCNE2
KCNE3
KCNH2
KCNJ2
KCNJ5
KCNJ8
KCNQ1
LAMP2
LMNA
MYL4
NKX2-5
NPPA
PKP2
PLN
PRKAG2
RYR2
SCN2B
SCN3B
SCN4B
SCN5A
SNTA1
TBX5
TECRL
TMEM43
TRDN
TRPM4
TTN

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

idiopatisch VF / Sudden Cardiac Death (SCD) CAR09v23.1

43 genen

Genpanel dekking 15X: 100 %
CAR09v23.1
10-04-2024
ACTC1
ACTN2
BAG3
CACNA1C
CALM1
CALM2
CALM3
CASQ2
DES
DMD
DPP6
DSC2
DSG2
DSP
FLNC
JUP
KCNE1
KCNE2
KCNH2
KCNJ2
KCNQ1
LAMP2
LMNA
MYBPC3
MYH7
MYL2
MYL3
PKP2
PLN
PPA2
PRKAG2
RBM20
RYR2
SCN5A
SLC4A3
TECRL
TMEM43
TNNC1
TNNI3
TNNT2
TPM1
TRDN
TTN

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Individuele genanalyse SCN5A (VERVALLEN) CAR07v21.1

1 genen

Genpanel dekking 15X: 100 %
CAR07v21.1
10-04-2024
SCN5A

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Individuele genanalyse TTN (VERVALLEN) CAR06v16.1

1 genen

Genpanel dekking 15X: 99.9 %
CAR06v16.1
10-04-2024
TTN

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Pulmonaire Arteriele Hypertensie (PAH) CAR08v22.1

15 genen

Genpanel dekking 15X: 100 %
CAR08v22.1
10-04-2024
ABCC8
ACVRL1
ATP13A3
BMPR2
CAV1
EIF2AK4
ENG
GDF2
GGCX
KCNK3
KDR
SMAD9
SOX17
TBX4
TET2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Vasculaire aandoeningen CAR04v23.1

38 genen

Genpanel dekking 15X: 100 %
CAR04v23.1
10-04-2024
Archief
ACTA2
ARIH1
BGN
COL1A1
COL1A2
COL3A1
COL5A1
COL5A2
EFEMP2
ELN
FBN1
FBN2
FLNA
FOXE3
GATA4
GATA5
HCN4
LMOD1
LOX
LTBP3
MAT2A
MFAP5
MYH11
MYLK
NOTCH1
PRKG1
ROBO4
SKI
SLC2A10
SMAD2
SMAD3
SMAD4
SMAD6
TGFB2
TGFB3
TGFBR1
TGFBR2
THSD4

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Ziekte van Fabry FABRYv23.1

1 genen

Genpanel dekking 15X: 100 %
FABRYv23.1
10-04-2024
GLA

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Dysmorfologie

Amelogenesis imperfecta DON02v19.1

27 genen

Genpanel dekking 15X: 100 %
DON02v19.1
10-04-2024
Archief
ACPT
AMBN
AMELX
C4orf26
CNNM4
COL17A1
DLX3
ENAM
FAM20A
FAM20C
FAM83H
GPR68
ITGB6
KLK4
LAMA3
LAMB3
LTBP3
MMP20
ORAI1
PEX1
PEX6
RELT
ROGDI
SLC13A5
SLC24A4
STIM1
WDR72

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Cantú syndroom ABCC9v23.1

1 genen

Genpanel dekking 15X: 100 %
ABCC9v23.1
10-04-2024
ABCC9

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Cleidocraniale dysplasie (CCD) RUNX2v23.1

1 genen

Genpanel dekking 15X: 100 %
RUNX2v23.1
10-04-2024
RUNX2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Currarino, triade van (TRIAD) TRIADv23.1

1 genen

Genpanel dekking 15X: 100 %
TRIADv23.1
10-04-2024
MNX1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Fraser syndroom FRA00v16.1

4 genen

Genpanel dekking 15X: 100 %
FRA00v16.1
10-04-2024
FRAS1
FREM1
FREM2
GRIP1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Hemifaciale microsomie OWS01v19.1

43 genen

Genpanel dekking 15X: 100 %
OWS01v19.1
10-04-2024
Archief
BMP4
CDC6
CDT1
CHD7
DHODH
EDNRA
EFTUD2
EIF4A3
EYA1
FGF10
FGF3
FGFR2
FGFR3
FRAS1
FREM2
GDF6
GNAI3
GRIP1
GSC
HMX1
HOXA2
HSPA9
KDM6A
KMT2D
OFD1
ORC1
ORC4
ORC6
OTX2
PLCB4
POLR1A
POLR1C
POLR1D
RPS28
SALL1
SALL4
SF3B4
SIX1
SIX5
SLC26A4
SOX10
TCOF1
TFAP2A

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Hypodontie / Oligodontie DON01v19.1

17 genen

Genpanel dekking 15X: 100 %
DON01v19.1
10-04-2024
Archief
AXIN2
BCOR
EDA
EDAR
EDARADD
FGFR1
FLNA
GJA1
GREM2
IRF6
LRP6
LTBP3
MSX1
PAX9
TP63
WNT10A
WNT10B

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Pierre Robin sequentie OWS03v19.1

20 genen

Genpanel dekking 15X: 99.8 %
OWS03v19.1
10-04-2024
Archief
AMER1
COL11A1
COL11A2
COL2A1
DHODH
EDN1
EFTUD2
GNAI3
PGM1
PLCB4
POLR1A
POLR1C
POLR1D
RBM10
SATB2
SF3B4
SLC26A2
SOX9
TBX1
TCOF1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Schisis (non)syndromaal / incl. Robin Sequence OWS02v20.2

194 genen

Genpanel dekking 15X: 99.8 %
OWS02v20.2
10-04-2024
ACTB
ACTG1
ALX1
ALX3
AMER1
AMMECR1
ANKRD11
ARHGAP29
ARHGAP31
ASXL1
B3GALT6
B3GALTL
B4GALT7
B9D2
BCOR
BMP2
BMPER
C2CD3
C5orf42
CC2D2A
CDC45
CDH1
CDKN1C
CHD7
CHRNG
CHST14
COL11A1
COL11A2
COL2A1
COL9A1
COLEC10
COLEC11
CTCF
CTNND1
DDX3X
DDX59
DHCR7
DHODH
DLL4
DOCK6
DVL1
DVL3
DYNC2H1
DYNC2LI1
EBP
EDN1
EDNRA
EFNB1
EFTUD2
EIF2S3
EIF4A3
EOGT
EPG5
ESCO2
EYA1
FAM20C
FGD1
FGF8
FGFR1
FGFR2
FLNA
FLNB
FOXC2
FOXE1
FRAS1
FTO
GDF6
GJA1
GLI2
GLI3
GNAI3
GNB1
GPC3
GRHL3
HDAC8
HYLS1
ICK
IFT140
IFT172
IFT57
IFT80
IMPAD1
INTU
IRF6
KANSL1
KAT6A
KCNJ2
KCNK9
KDM6A
KIAA0196
KIAA0586
KIAA1279
KIF7
KMT2D
MAP3K7
MAPRE2
MASP1
MBTPS2
MED25
MEIS2
MID1
MKS1
MSX1
NEDD4L
NEK1
NIPBL
NOTCH1
OFD1
ORC1
PAX3
PGM1
PHF8
PHGDH
PIEZO2
PIGN
PIGV
PLCB4
POLR1A
POLR1C
POLR1D
POMT1
PORCN
PQBP1
PROKR2
PRRX1
PTCH1
PTCH2
PVRL1
RBM10
RIPK4
ROR2
RPGRIP1L
RPL11
RPL26
RPL5
RPS19
RPS26
RPS28
RUNX2
SALL4
SATB2
SCARF2
SEC23A
SEMA3E
sep-09
SF3B4
SHH
SIX1
SIX3
SIX5
SKI
SLC26A2
SMAD3
SMAD4
SMC1A
SMC3
SMCHD1
SMS
SNRPB
SON
SOX9
SPECC1L
STAC3
STAMBP
TAPT1
TBX1
TBX15
TBX2
TBX22
TCOF1
TCTN3
TFAP2A
TGDS
TGFB3
TGFBR1
TGFBR2
TGIF1
TMCO1
TMEM216
TMEM8C
TP63
TRIM37
TUBB
TWIST1
TXNL4A
USP9X
WDR35
WNT4
WNT5A
XYLT1
ZEB2
ZIC2
ZIC3
ZMPSTE24
ZSWIM6

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Epilepsie

Benigne neo-natale/infantiele convulsies (VERVALLEN) EPI01v21.1

7 genen

Genpanel dekking 15X: 100 %
EPI01v21.1
10-04-2024
ATP1A1
KCNQ2
KCNQ3
PRRT2
SCN2A
SCN8A
TBC1D24

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Dravet syndroom SCN1Av23.1

1 genen

Genpanel dekking 15X: 100 %
SCN1Av23.1
10-04-2024
SCN1A

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Epilepsie (koortsgevoelig /ontstekingsgemedieerd, gegeneraliseerd en/of paroxysmaal) EPI11v21.1

29 genen

Genpanel dekking 15X: 99.3 %
EPI11v21.1
10-04-2024
ATP1A2
ATP1A3
CACNA1A
CHD2
CLCN4
CPT2
CSTB
GABRA1
GABRB3
GABRG2
HCN1
HCN2
KCNA1
KCNA2
KCNMA1
MAST3
PCDH19
POLG
PRRT2
RANBP2
RORB
SCN1A
SCN1B
SCN2A
SCN8A
SLC1A3
SLC2A1
STX1B
TBC1D24

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Epilepsie met paroxysmale aandoeningen (VERVALLEN) EPI08v18.1

11 genen

Genpanel dekking 15X: 99.9 %
EPI08v18.1
10-04-2024
ATP1A2
ATP1A3
CACNA1A
CTNND2
KCNA2
KCNMA1
PRRT2
SCN1A
SCN8A
SLC1A3
SLC2A1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Epilepsie volledig genpanel EPI00v21.1

301 genen

Genpanel dekking 15X: 99.9 %
EPI00v21.1
10-04-2024
Archief
AARS
ABAT
ACTL6B
ADPRHL2
ADSL
ALDH7A1
ALG13
AMT
ANKRD11
AP2M1
AP3B2
ARG1
ARHGEF9
ARV1
ARX
ASAH1
ATAD1
ATP1A1
ATP1A2
ATP1A3
ATP6AP2
ATP6V1A
ATRX
BRAT1
C12orf57
CACNA1A
CACNA1B
CACNA1D
CACNA1E
CACNA1G
CACNA2D2
CAD
CASK
CDK19
CDKL5
CERS1
CHD2
CHRNA2
CHRNA4
CHRNB2
CIC
CLCN4
CLN3
CLN5
CLN6
CLN8
CLTC
CNKSR2
CNNM2
CNPY3
CNTNAP2
COQ2
COQ4
CPLX1
CPT2
CSNK2B
CSTB
CTSD
CUL4B
CUX2
CYFIP2
D2HGDH
DCX
DEAF1
DENND5A
DEPDC5
DHDDS
DHPS
DIAPH1
DMXL2
DNAJC5
DNM1
DNM1L
DOCK7
DPM1
DYRK1A
EEF1A2
EIF2S3
EIF3F
EPM2A
FARS2
FGD1
FGF12
FLNA
FOLR1
FOXG1
FRRS1L
GABBR2
GABRA1
GABRA2
GABRA3
GABRA5
GABRB1
GABRB2
GABRB3
GABRG2
GAMT
GATM
GCSH
GLB1
GLDC
GLRA1
GLRB
GNAO1
GNB1
GNB5
GOSR2
GOT2
GPAA1
GPC3
GPHN
GRIA3
GRIA4
GRIK2
GRIN1
GRIN2A
GRIN2B
GRIN2D
GRM7
GRN
HACE1
HCFC1
HCN1
HECW2
HNRNPR
HNRNPU
HSD17B10
HUWE1
INTS8
IQSEC2
IRF2BPL
KANSL1
KARS
KAT8
KCNA1
KCNA2
KCNB1
KCNC1
KCNC2
KCND3
KCNH1
KCNJ10
KCNMA1
KCNQ2
KCNQ3
KCNQ5
KCNT1
KCNT2
KCTD3
KCTD7
KDM5C
KIAA2022
KIF1A
KMT2A
KPNA7
LGI1
LIAS
MAST3
MBD5
MBOAT7
MDH2
MECP2
MED12
MEF2C
MFSD8
MOCS1
MOCS2
MPDU1
MTHFR
MTOR
NACC1
NAPB
NBEA
NHLRC1
NPRL2
NPRL3
NRXN1
NSDHL
NTRK2
NUS1
OFD1
OPHN1
OTUD6B
PACS2
PAK1
PAK3
PARS2
PCDH19
PGAP1
PHACTR1
PHF6
PHGDH
PIGA
PIGB
PIGC
PIGG
PIGH
PIGN
PIGO
PIGP
PIGQ
PIGT
PIGU
PIGW
PLCB1
PLP1
PNKP
PNPO
POLG
PPP2CA
PPP3CA
PPT1
PQBP1
PRICKLE1
PRIMA1
PROSC
PRRT2
PSAT1
PSPH
PURA
QARS
RAB39B
RAI1
RANBP2
RELN
RHOBTB2
RNASEH2A
RNASEH2B
RNASEH2C
ROGDI
RORA
RORB
RPS6KA3
SAMHD1
SCARB2
SCN1A
SCN1B
SCN2A
SCN3A
SCN8A
SETD1A
SHANK3
SIK1
SLC12A5
SLC13A5
SLC19A3
SLC1A2
SLC1A3
SLC1A4
SLC25A1
SLC25A12
SLC25A22
SLC2A1
SLC35A2
SLC6A1
SLC6A5
SLC6A8
SLC9A6
SMC1A
SMS
SNAP25
SON
SPATA5
SPTAN1
ST3GAL3
ST3GAL5
STAMBP
STRADA
STX1B
STXBP1
SYN1
SYNGAP1
SYNJ1
SYP
SZT2
TANC2
TANGO2
TBC1D24
TBCE
TBCK
TCF4
TDP2
TPP1
TRAK1
TREX1
TRIM8
TRIO
TRPM6
TSC1
TSC2
UBA5
UBE2A
UBE3A
UFM1
UGDH
UGP2
WDR45
WWOX
YWHAG
ZDHHC9
ZEB2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Epileptische encephalopathie (EIEE) (VERVALLEN) EPI02v18.1

90 genen

Genpanel dekking 15X: 99.9 %
EPI02v18.1
10-04-2024
ACTL6B
ALDH7A1
ALG13
ANKRD11
AP3B2
ARHGEF9
ARV1
ARX
ATAD1
ATP1A3
BRAT1
CDKL5
CHD2
CNKSR2
CSNK2B
DENND5A
DEPDC5
DNM1
DOCK7
EEF1A2
FOXG1
FRRS1L
GABRA1
GABRA3
GABRB3
GNAO1
GRIN1
GRIN2A
GRIN2B
GRIN2D
HCFC1
HCN1
HNRNPU
HUWE1
IRF2BPL
KCNA2
KCNB1
KCNQ2
KCNQ3
KCNQ5
KCNT1
KIAA2022
KPNA7
MDH2
MECP2
MEF2C
MOCS1
MOCS2
NAPB
NBEA
PCDH19
PHGDH
PLCB1
PNKP
PNPO
POLG
PRRT2
PSAT1
PSPH
PURA
SCN1A
SCN1B
SCN2A
SCN8A
SIK1
SLC12A5
SLC13A5
SLC19A3
SLC25A22
SLC2A1
SLC35A2
SLC6A1
SNAP25
SPTAN1
ST3GAL3
STX1B
STXBP1
SYNGAP1
SYNJ1
SZT2
TBC1D24
TBCE
TRIO
UBA5
UBE3A
UGDH
WDR45
WWOX
YWHAG
ZEB2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Focale epilepsie EPI04v21.1

22 genen

Genpanel dekking 15X: 99.9 %
EPI04v21.1
10-04-2024
Archief
CHRNA2
CHRNA4
CHRNB2
CNKSR2
DCX
DEPDC5
FLNA
GRIN2A
KCNT1
LGI1
MICAL1
MTOR
NPRL2
NPRL3
POLG
PRIMA1
RELN
SLC12A5
SYN1
TSC1
TSC2
ZDHHC9

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

ICE/JME/CAE (VERVALLEN) EPI07v18.1

7 genen

Genpanel dekking 15X: 100 %
EPI07v18.1
10-04-2024
CACNB4
CHD2
GABRA1
GABRB3
SCN8A
SLC2A1
SLC6A1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Koortsconvulsies/ GEFS+ (VERVALLEN) EPI03v18.1

17 genen

Genpanel dekking 15X: 99.8 %
EPI03v18.1
10-04-2024
ATP1A2
CACNA1A
CHD2
CLCN4
GABRA1
GABRB3
GABRG2
HCN1
KCNA2
PCDH19
POLG
SCN1A
SCN1B
SCN2A
SCN8A
STX1B
TBC1D24

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Ontstekings-gemediëerde epilepsie (VERVALLEN) EPI10v17.1

3 genen

Genpanel dekking 15X: 99.7 %
EPI10v17.1
10-04-2024
CPT2
RANBP2
SCN1A

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Progressieve myoclone epilepsie (VERVALLEN) EPI05v18.1

14 genen

Genpanel dekking 15X: 99.5 %
EPI05v18.1
10-04-2024
ASAH1
CERS1
CSNK2B
EPM2A
GOSR2
IRF2BPL
KCNA2
KCNC1
KCTD7
NHLRC1
POLG
PRICKLE1
PRICKLE2
SCARB2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Stofwisselings-ziekten met epilepsie (VERVALLEN) EPI06v18.1

38 genen

Genpanel dekking 15X: 99.9 %
EPI06v18.1
10-04-2024
ADSL
ALDH7A1
ALG13
AMT
CLN3
CLN5
CLN6
CLN8
CPT2
CTSD
DNAJC5
FOLR1
GAMT
GCSH
GLDC
GLRA1
GLRB
GPHN
GRN
HCFC1
MDH2
MFSD8
MOCS1
MOCS2
MTHFR
PHGDH
PIGA
PIGN
PIGT
PNPO
POLG
PPT1
PSAT1
PSPH
SLC2A1
SLC35A2
SLC6A8
TPP1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Syndromen met epilepsie en intellectuele beperking (VERVALLEN) EPI09v18.1

117 genen

Genpanel dekking 15X: 99.8 %
EPI09v18.1
10-04-2024
AARS
ACTL6B
ALG13
ANKRD11
AP3B2
ARV1
ARX
ATAD1
ATP1A3
ATP6AP2
ATRX
CASK
CDKL5
CHD2
CLCN4
CNKSR2
CNTNAP2
COQ4
CSNK2B
CUL4B
DCX
DENND5A
DOCK7
DYRK1A
EEF1A2
FGD1
FLNA
FOXG1
FRRS1L
GABRA3
GPC3
GRIA3
GRIK2
GRIN1
GRIN2A
GRIN2B
GRIN2D
HCFC1
HNRNPU
HSD17B10
HUWE1
INTS8
IQSEC2
IRF2BPL
KCNA2
KCNB1
KCND3
KCNH1
KCNJ10
KCNQ5
KDM5C
KIAA2022
KMT2A
KPNA7
MBD5
MDH2
MECP2
MED12
MEF2C
NAPB
NBEA
NRXN1
NSDHL
OFD1
OPHN1
PAK3
PGAP1
PHF6
PIGA
PIGN
PIGO
PIGT
PLP1
PNKP
POLG
PPP3CA
PQBP1
PURA
QARS
RAB39B
RAI1
RNASEH2A
RNASEH2B
RNASEH2C
ROGDI
RPS6KA3
SAMHD1
SCN8A
SHANK3
SLC13A5
SLC35A2
SLC6A1
SLC6A8
SLC9A6
SMC1A
SMS
SNAP25
SON
ST3GAL3
STXBP1
SYNGAP1
SYP
SZT2
TBC1D24
TBCK
TCF4
TREX1
TRIO
UBA5
UBE2A
UBE3A
UGDH
WDR45
WWOX
YWHAG
ZDHHC9
ZEB2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Ziekte van Unverricht Lundborg (ULD) / Progressieve myoclonische epilepsie type 1 EPM1v23.1

1 genen

Genpanel dekking 15X: 100 %
EPM1v23.1
10-04-2024
CSTB

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Erfelijke kanker

Borst- en eierstokkanker ONC02v22.1

10 genen

Genpanel dekking 15X: 100 %
ONC02v22.1
10-04-2024
ATM
BARD1
BRCA1
BRCA2
BRIP1
CHEK2
PALB2
PTEN
RAD51C
RAD51D

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Eierstokkanker ONC01v22.1

6 genen

Genpanel dekking 15X: 100 %
ONC01v22.1
10-04-2024
Archief
BRCA1
BRCA2
BRIP1
PALB2
RAD51C
RAD51D

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Erfelijke kanker ONC00v21.1

260 genen

Genpanel dekking 15X: 99.8 %
ONC00v21.1
10-04-2024
Archief
ABCB11
ACD
AIP
ALK
AMER1
AMH
AMHR2
ANKRD26
APC
ARMC5
ASXL1
ATM
ATR
AXIN2
BAP1
BARD1
BLM
BMPR1A
BRAF
BRCA1
BRCA2
BRIP1
BUB1
BUB1B
BUB3
CARD11
CBL
CD27
CD70
CDC73
CDH1
CDH23
CDK4
CDKN1A
CDKN1B
CDKN1C
CDKN2A
CDKN2B
CDKN2C
CEBPA
CEP57
CHEK2
CREBBP
CTC1
CTLA4
CTNNA1
CTR9
CYLD
DDB2
DDX11
DDX41
DICER1
DIS3L2
DKC1
DLST
DNAJC21
DOCK8
EGFR
EGLN1
EGLN2
ELANE
EPAS1
EPCAM
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ESR2
ETV6
EXT1
EXT2
EZH2
FAN1
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FAS
FASLG
FBXW7
FH
FLCN
G6PC3
GALNT12
GATA1
GATA2
GDNF
GFI1
GPC3
GPC4
GPR161
GREM1
GRHL2
HABP2
HACE1
HAVCR2
HAX1
HNF1A
HOXB13
HRAS
IDH1
IDH2
IKBKAP
IKZF1
IPMK
ITK
KIF1B
KIT
KLLN
KRAS
LHCGR
LIG4
LZTR1
MAD2L2
MAP2K1
MAP2K2
MAX
MBD4
MCM8
MCM9
MDH2
MEN1
MET
MITF
MLH1
MLH3
MPL
MRE11A
MSH2
MSH3
MSH6
MTAP
MUTYH
NBN
NF1
NF2
NHP2
NOP10
NPM1
NRAS
NSD1
NTHL1
NYNRIN
OGG1
PALB2
PARN
PAX5
PDGFB
PDGFRA
PHOX2B
PIK3CA
PMS2
POLD1
POLE
POLH
POT1
POU6F2
PPM1D
PRF1
PRKAR1A
PRSS1
PTCH1
PTEN
PTPN11
RAD50
RAD51C
RAD51D
RAF1
RB1
RECQL
RECQL4
REST
RET
RHBDF2
RINT1
RIT1
RMRP
RNASEL
RNF43
RPA1
RPL11
RPL15
RPL18
RPL27
RPL35A
RPL5
RPS10
RPS15A
RPS17
RPS19
RPS20
RPS24
RPS26
RPS27
RPS28
RPS29
RPS7
RRAS
RTEL1
RUNX1
SAMD9
SAMD9L
SBDS
SCG5
SDHA
SDHAF2
SDHB
SDHC
SDHD
SEMA4A
SETBP1
SFTPA1
SFTPA2
SH2B3
SH2D1A
SHOC2
SLX4
SMAD4
SMAD9
SMARCA4
SMARCB1
SMARCE1
SOS1
SPINK1
SPRED1
SQSTM1
STK11
SUCLG2
SUFU
TERC
TERF2IP
TERT
TG
TGFBR1
THPO
TINF2
TMEM127
TNFRSF11A
TP53
TRIM28
TRIM37
TRIP13
TSC1
TSC2
USB1
VHL
WAS
WRAP53
WRN
WT1
XPA
XPC

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Feochromocytoom ONC04v18.1

11 genen

Genpanel dekking 15X: 100 %
ONC04v18.1
10-04-2024
FH
MAX
MDH2
RET
SDHA
SDHAF2
SDHB
SDHC
SDHD
TMEM127
VHL

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Kinderkanker predispositie (alleen beschikbaar voor klinisch genetici) ONC14v23.1

140 genen

Genpanel dekking 15X: 100 %
ONC14v23.1
10-04-2024
ABCB11
ACD
AIP
ALK
AMER1
APC
ATM
BAP1
BLM
BRAF
BRCA2
BRIP1
BUB1B
CBL
CD27
CD70
CDC73
CDH1
CDKN1C
CDKN2A
CEBPA
CEP57
CREBBP
CTC1
CTLA4
CTR9
DDB2
DICER1
DIS3L2
DKC1
EGLN1
EGLN2
EPAS1
EPCAM
ERCC2
ERCC3
ERCC4
ERCC5
ETV6
EZH2
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FAS
FBXW7
FH
GATA2
GPC3
GPR161
HAVCR2
HRAS
IKBKAP
IKZF1
ITK
KRAS
LIG4
LZTR1
MAP2K1
MAP2K2
MDH2
MEN1
MLH1
MSH2
MSH6
NBN
NF1
NF2
NHP2
NOP10
NRAS
NSD1
PALB2
PARN
PAX5
PHOX2B
PIK3CA
PMS2
POLD1
POLE
POLH
PTCH1
PTEN
PTPN11
RAF1
RB1
RECQL4
REST
RET
RIT1
RPL11
RPL35A
RPL5
RPS10
RPS19
RPS24
RPS26
RPS27
RRAS
RTEL1
RUNX1
SAMD9
SAMD9L
SBDS
SDHA
SDHAF2
SDHB
SDHC
SDHD
SETBP1
SH2D1A
SHOC2
SMARCA4
SMARCB1
SMARCE1
SOS1
STK11
SUFU
TCF3
TERT
TINF2
TP53
TRIM28
TRIM37
TRIP13
TSC1
TSC2
TYK2
USB1
VHL
WAS
WRAP53
WT1
XPA
XPC

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Li-Fraumeni syndroom (interne aanvragers) TP53v23.1

1 genen

Genpanel dekking 15X: 100 %
TP53v23.1
10-04-2024
TP53

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Lobulaire borstkanker, maagkanker, erfelijk CDH1 (enkel interne aanvragers) CDH1v23.1

1 genen

Genpanel dekking 15X: 100 %
CDH1v23.1
10-04-2024
CDH1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Lynch syndroom (HNPCC1) MSH2v23.1

1 genen

Genpanel dekking 15X: 100 %
MSH2v23.1
10-04-2024
MSH2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Lynch syndroom (HNPCC2) MLH1v23.1

1 genen

Genpanel dekking 15X: 100 %
MLH1v23.1
10-04-2024
MLH1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Lynch syndroom (HNPCC5) MSH6v23.1

1 genen

Genpanel dekking 15X: 100 %
MSH6v23.1
10-04-2024
MSH6

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

MEN1 ONC06v23.1

11 genen

Genpanel dekking 15X: 100 %
ONC06v23.1
10-04-2024
Archief
AIP
AP2S1
CASR
CDC73
CDKN1A
CDKN1B
CDKN2B
CDKN2C
GNA11
MEN1
RET

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Multipele Endocriene Neoplasie type 1 (MEN1) MEN1v23.1

1 genen

Genpanel dekking 15X: 100 %
MEN1v23.1
10-04-2024
MEN1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Multipele Endocriene Neoplasie type 2A (MEN2A) MEN2Av23.1

1 genen

Genpanel dekking 15X: 100 %
MEN2Av23.1
10-04-2024
RET

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Nierkanker ONC07v18.1

7 genen

Genpanel dekking 15X: 100 %
ONC07v18.1
10-04-2024
BAP1
FH
FLCN
MET
PTEN
SDHB
VHL

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Non-polyposis/ darmkanker ONC09v20.1

7 genen

Genpanel dekking 15X: 100 %
ONC09v20.1
10-04-2024
EPCAM
MLH1
MSH2
MSH6
PMS2
POLD1
POLE

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Pancreaskanker ONC13v22.1

6 genen

Genpanel dekking 15X: 100 %
ONC13v22.1
10-04-2024
ATM
BRCA1
BRCA2
CDKN2A
PALB2
STK11

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Paraganglioom ONC05v18.1

6 genen

Genpanel dekking 15X: 100 %
ONC05v18.1
10-04-2024
MAX
SDHA
SDHAF2
SDHB
SDHC
SDHD

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Polyposis/ darmkanker ONC08v20.1

20 genen

Genpanel dekking 15X: 100 %
ONC08v20.1
10-04-2024
APC
BMPR1A
EPCAM
GREM1
MLH1
MLH3
MSH2
MSH3
MSH6
MUTYH
NTHL1
PMS2
POLD1
POLE
PTEN
RNF43
RPS20
SCG5
SMAD4
STK11

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Prostaatkanker ONC11v21.1

5 genen

Genpanel dekking 15X: 100 %
ONC11v21.1
10-04-2024
ATM
BRCA1
BRCA2
CHEK2
PALB2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

PTEN Hamartoma tumor syndroom (PHTS) PTENv23.1

1 genen

Genpanel dekking 15X: 100 %
PTENv23.1
10-04-2024
PTEN

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Risicofactor voor o.a. borstkanker CHEK2v23.1

1 genen

Genpanel dekking 15X: 100 %
CHEK2v23.1
10-04-2024
CHEK2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Risicofactor voor o.a. borstkanker / Ataxia-telangiectasia ATMv23.1

1 genen

Genpanel dekking 15X: 100 %
ATMv23.1
10-04-2024
ATM

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Von Hippel-Lindau, ziekte van VHLv23.1

1 genen

Genpanel dekking 15X: 100 %
VHLv23.1
10-04-2024
VHL

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Wilms tumor predispositie ONC03v23.1

29 genen

Genpanel dekking 15X: 99.9 %
ONC03v23.1
10-04-2024
Archief
AMER1
ASXL1
BLM
BRCA2
BUB1B
CDC73
CDKN1C
CEP57
CTR9
DICER1
DIS3L2
FBXW7
GPC3
GPC4
HACE1
MLH1
MSH2
MSH6
NF1
NYNRIN
PALB2
PIK3CA
PMS2
REST
TP53
TRIM28
TRIM37
TRIP13
WT1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Leverziekten

Cholestase, brede differentiaal diagnose (voormalig MET10) HEP02v24.1

81 genen

Genpanel dekking 15X: 100 %
HEP02v24.1
10-04-2024
ABCB11
ABCB4
ABCC2
ABCD3
ADK
AHCY
AKR1D1
ALDOB
AMACR
ARG1
ASAH1
ATP7B
ATP8B1
BAAT
BCS1L
C10orf2
CFTR
CIRH1A
CLDN1
CYP27A1
CYP7B1
DCDC2
DGUOK
DHCR7
FAH
GALT
GBA
GBE1
GLIS3
HADHA
HNF1A
HNF1B
HSD3B7
IFT43
INVS
JAG1
KIF12
LIPA
LSR
MPV17
MTM1
MYO5B
NOTCH2
NPC1
NPC2
NPHP3
NR1H4
PEX1
PEX10
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX6
POLG
POMC
PROP1
SCO1
SERPINA1
SHPK
SLC25A13
SLC27A5
SLCO1B1
SLCO1B3
STX3
SUCLA2
TALDO1
TJP2
TPO
TRMU
TULP3
UGT1A1
UNC45A
USP53
VIPAS39
VPS33B
ZFYVE19

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Progressieve familiaire intrahepatische cholestase (PFIC) (voormalig MET02) HEP01v24.1

10 genen

Genpanel dekking 15X: 100 %
HEP01v24.1
10-04-2024
ABCB11
ABCB4
ATP8B1
KIF12
LSR
MYO5B
NR1H4
TJP2
USP53
ZFYVE19

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Metabole ziekten

Biotinidase deficiëntie BTDv23.1

1 genen

Genpanel dekking 15X: 100 %
BTDv23.1
10-04-2024
BTD

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Cholestase, brede differentiaal diagnose (VERVALLEN zie HEP02) MET10v21.1

69 genen

Genpanel dekking 15X: 100 %
MET10v21.1
10-04-2024
ABCB11
ABCB4
ABCC2
ABCD3
ADK
AHCY
AKR1D1
ALDOB
AMACR
ARG1
ASAH1
ATP7B
ATP8B1
BAAT
BCS1L
C10orf2
CFTR
CIRH1A
CLDN1
CYP27A1
CYP7B1
DCDC2
DGUOK
DHCR7
FAH
GALT
GBA
GBE1
GLIS3
HADHA
HNF1A
HNF1B
HSD3B7
IFT43
INVS
JAG1
KIF12
LIPA
LSR
MPV17
MTM1
MYO5B
NOTCH2
NPC1
NPC2
NPHP3
NR1H4
PEX1
PEX14
POLG
POMC
PROP1
SCO1
SERPINA1
SHPK
SLC25A13
SLC27A5
SLCO1B1
SLCO1B3
STX3
SUCLA2
TALDO1
TJP2
TPO
TRMU
USP53
VIPAS39
VPS33B
ZFYVE19

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Congenital disorder of glycosylation type 1A (CDG1A) PMM2v23.1

1 genen

Genpanel dekking 15X: 100 %
PMM2v23.1
10-04-2024
PMM2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Congenital disorder of glycosylation type 1P ALG11v23.1

1 genen

Genpanel dekking 15X: 100 %
ALG11v23.1
10-04-2024
ALG11

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Congenital disorder of glycosylation type 3 COG6v23.1

1 genen

Genpanel dekking 15X: 100 %
COG6v23.1
10-04-2024
COG6

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Familiaire Hyperinsulinemische Hypoglycemie type 7, (HHF7) S_6A1v23.1

1 genen

Genpanel dekking 15X: 100 %
S_6A1v23.1
10-04-2024
SLC16A1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Fenylketonurie type 1 (PKU) PKUv23.1

1 genen

Genpanel dekking 15X: 100 %
PKUv23.1
10-04-2024
PAH

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Fenylketonurie type 3 (PTPS) PTPSv23.1

1 genen

Genpanel dekking 15X: 100 %
PTPSv23.1
10-04-2024
PTS

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Glycerolkinase deficiëntie GKDv23.1

1 genen

Genpanel dekking 15X: 100 %
GKDv23.1
10-04-2024
GK

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Glycine encephalopathie/non-ketotische hyperglycinemie MET01v22.1

3 genen

Genpanel dekking 15X: 99.1 %
MET01v22.1
10-04-2024
Archief
AMT
GCSH
GLDC

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Glycogeen-stapelingsziekten MET06v16.2

23 genen

Genpanel dekking 15X: 100 %
MET06v16.2
10-04-2024
Archief
AGL
ALDOA
ENO3
G6PC
GAA
GBE1
GYG1
GYS1
GYS2
LAMP2
LDHA
PFKM
PGAM2
PGM1
PHKA1
PHKA2
PHKB
PHKG2
PRKAG2
PYGL
PYGM
SLC2A2
SLC37A4

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Hartnup disorder S_A19v23.1

1 genen

Genpanel dekking 15X: 100 %
S_A19v23.1
10-04-2024
SLC6A19

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Hemochromatose, (HFE) HHv23.1

1 genen

Genpanel dekking 15X: 100 %
HHv23.1
10-04-2024
HFE

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Medium-Chain Acyl-CoA Dehydrogenase deficiëntie (MCAD) MCADv23.1

1 genen

Genpanel dekking 15X: 100 %
MCADv23.1
10-04-2024
ACADM

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Metachromatische Leukodystrofie (MLD) MLDv23.1

1 genen

Genpanel dekking 15X: 100 %
MLDv23.1
10-04-2024
ARSA

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Methylmalon acidurie (MMA) MET11v20.1

29 genen

Genpanel dekking 15X: 100 %
MET11v20.1
10-04-2024
ABCD4
ACSF3
ALDH6A1
AMN
CBS
CD320
CLYBL
CUBN
GIF
HCFC1
HIBCH
IVD
LMBRD1
MCEE
MMAA
MMAB
MMACHC
MMADHC
MTHFR
MTR
MTRR
MUT
SLC46A1
SUCLA2
SUCLG1
TCN1
TCN2
THAP11
ZNF143

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Mitochondriële ademhalings-keten defecten MET07v16.1

32 genen

Genpanel dekking 15X: 99.9 %
MET07v16.1
10-04-2024
ADCK3
APTX
BCS1L
C10orf2
COA5
COQ2
COQ9
COX14
COX6B1
DGUOK
FASTKD2
NDUFAF2
NDUFAF3
NDUFAF4
NDUFB3
NDUFS1
NDUFS2
NDUFS4
NDUFS6
OPA1
PDSS1
PDSS2
POLG
RRM2B
SDHA
SDHAF1
SLC25A4
SUCLA2
TK2
TTC19
UQCRB
UQCRQ

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Niemann-Pick disease MET04v16.1

3 genen

Genpanel dekking 15X: 100 %
MET04v16.1
10-04-2024
NPC1
NPC2
SMPD1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Pompe, Ziekte van, Glycogen storage disease II (GSD2) POMPEv23.1

1 genen

Genpanel dekking 15X: 100 %
POMPEv23.1
10-04-2024
GAA

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Progressieve familiaire intrahepatische cholestase (PFIC) (VERVALLEN zie HEP01) MET02v21.1

9 genen

Genpanel dekking 15X: 100 %
MET02v21.1
10-04-2024
ABCB11
ABCB4
ATP8B1
KIF12
LSR
NR1H4
TJP2
USP53
ZFYVE19

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

PyruvaatKinase deficiëntie (PK) PKv23.1

1 genen

Genpanel dekking 15X: 100 %
PKv23.1
10-04-2024
PKLR

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Serine biosynthese-defect MET03v16.1

3 genen

Genpanel dekking 15X: 100 %
MET03v16.1
10-04-2024
PHGDH
PSAT1
PSPH

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Tyrosinemie, type I HT1v23.1

1 genen

Genpanel dekking 15X: 100 %
HT1v23.1
10-04-2024
FAH

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Vetzuuroxidatie-stoornissen (VERVALLEN per 09-01-2023) MET05v16.1

12 genen

Genpanel dekking 15X: 100 %
MET05v16.1
10-04-2024
ACADVL
CPT1A
CPT1B
CPT2
ETFA
ETFB
ETFDH
HADHA
HADHB
SLC22A5
SLC25A20
SLC52A3

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Wilson, ziekte van (WD) WDv23.1

1 genen

Genpanel dekking 15X: 100 %
WDv23.1
10-04-2024
ATP7B

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Neurologische ziekten

"Amyloidosis I en VII; transthyretin amyloidosis" TTRv23.1

1 genen

Genpanel dekking 15X: 100 %
TTRv23.1
10-04-2024
TTR

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Cerebrale caverneuse malformaties (CCM) NEU03v16.1

3 genen

Genpanel dekking 15X: 100 %
NEU03v16.1
10-04-2024
CCM2
KRIT1
PDCD10

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

FTD-ALS NEU01v22.1

28 genen

Genpanel dekking 15X: 100 %
NEU01v22.1
10-04-2024
Archief
ALS2
ANG
ANXA11
APP
C21orf2
CHCHD10
CHMP2B
ERBB4
FUS
GRN
KIF5A
MAPT
MATR3
NEK1
OPTN
PFN1
PRPH
PSEN1
PSEN2
SETX
SIGMAR1
SOD1
TARDBP
TBK1
TUBA4A
UBQLN2
VAPB
VCP

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Fuhrmann syndroom WNT7Av23.1

1 genen

Genpanel dekking 15X: 100 %
WNT7Av23.1
10-04-2024
WNT7A

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Pitt Hopkins-like syndroom 1 C_AP2v23.1

1 genen

Genpanel dekking 15X: 100 %
C_AP2v23.1
10-04-2024
CNTNAP2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Pitt Hopkins-like syndroom 2 NRXN1v23.1

1 genen

Genpanel dekking 15X: 99.1 %
NRXN1v23.1
10-04-2024
NRXN1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Sporadische ALS NEU05v22.1

2 genen

Genpanel dekking 15X: 100 %
NEU05v22.1
10-04-2024
FUS
SOD1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Ziekte van Fahr NEU04v24.1

8 genen

Genpanel dekking 15X: 99.3 %
NEU04v24.1
10-04-2024
Archief
CMPK2
JAM2
KIAA1161
NAA60
PDGFB
PDGFRB
SLC20A2
XPR1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Neuromusculaire ziekten

Ataxia (VERVALLEN) NEM14v22.1

57 genen

Genpanel dekking 15X: 99.9 %
NEM14v22.1
10-04-2024
ADCK3
AFG3L2
ANO10
APTX
ATG7
ATM
BEAN1
C10orf2
CACNA1A
CACNA1G
CACNB4
CCDC88C
COA7
CWF19L1
EBF3
EEF2
ELOVL4
ELOVL5
FGF14
FXN
GDAP2
GRID2
GRM1
IFRD1
ITPR1
KCNA1
KCNC3
KCND3
MME
MRE11A
MSTO1
NOP56
PDYN
PEX7
PHYH
POLG
PRKCG
RNF216
SACS
SCYL1
SETX
SIL1
SLC1A3
SNX14
SPTBN2
STUB1
SYNE1
TDP1
TDP2
TGM6
THG1L
TK2
TMEM240
TRPC3
TTBK2
TTPA
VPS13D

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

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Breed NMZ panel NEM27v22.1

429 genen

Genpanel dekking 15X: 99.7 %
NEM27v22.1
10-04-2024
AARS
ABCD1
ABHD5
ACAD9
ACADVL
ACTA1
ACTN2
ACVR1
ADCK3
ADSSL1
AFG3L2
AGL
AGRN
AIFM1
ALDH18A1
ALDH3A2
ALG13
ALG14
ALG2
ALS2
AMPD2
ANO10
ANO5
AP4B1
AP4E1
AP4M1
AP4S1
AP5Z1
APTX
AR
ARHGEF10
ARL6IP1
ARSA
ASAH1
ASCC1
ATG7
ATL1
ATL3
ATM
ATP13A2
ATP1A1
ATP2A1
ATP7A
B3GALNT2
B3GNT1
B4GALNT1
BAG3
BEAN1
BICD2
BIN1
BSCL2
BVES
C10orf2
C12orf65
C19orf12
CACNA1A
CACNA1G
CACNA1S
CACNB4
CAPN1
CAPN3
CASQ1
CAV3
CCDC78
CCDC88C
CCT5
CFL2
CHAT
CHCHD10
CHKB
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
CLCN1
CLN3
CNTN1
CNTNAP1
COA7
COL12A1
COL13A1
COL6A1
COL6A2
COL6A3
COLQ
COX6A1
CPT2
CRYAB
CTDP1
CWF19L1
CYP2U1
CYP7B1
DAG1
DCAF8
DCTN1
DDHD1
DDHD2
DES
DGAT2
DHTKD1
DMD
DNAJB2
DNAJB6
DNM2
DNMT1
DOK7
DPAGT1
DPM1
DPM2
DPM3
DST
DYNC1H1
DYSF
EBF3
ECEL1
EEF2
EGR2
ELOVL4
ELOVL5
EMD
ENO3
ENTPD1
ERBB3
ERLIN1
ERLIN2
ETFA
ETFB
ETFDH
EXOSC3
EXOSC8
FA2H
FAM111B
FAM134B
FARS2
FASTKD2
FBLN5
FBXO38
FGD4
FGF14
FHL1
FIG4
FKRP
FKTN
FLAD1
FLNC
FXN
FXR1
GAA
GAN
GARS
GBA2
GBE1
GDAP1
GDAP2
GFPT1
GJB1
GJB3
GJC2
GLA
GLE1
GMPPB
GNB4
GNE
GOLGA2
GRID2
GRM1
GYG1
GYS1
HACE1
HARS
HEXB
HINT1
HK1
HNRNPA1
HNRNPA2B1
HNRNPDL
HOXD10
HRAS
HSPB1
HSPB3
HSPB8
HSPD1
HSPG2
IBA57
IFRD1
IGHMBP2
IKBKAP
INF2
INPP5K
ISCU
ISPD
ITGA7
ITPR1
KARS
KBTBD13
KCNA1
KCNC3
KCND3
KCNE1
KCNE1L
KCNE2
KCNE3
KCNJ18
KCNJ2
KCNJ5
KIAA0196
KIDINS220
KIF1A
KIF1B
KIF1C
KIF21A
KIF5A
KLC2
KLHL40
KLHL41
KLHL9
KY
L1CAM
LAMA2
LAMB2
LAMP2
LARGE
LDB3
LDHA
LIMS2
LITAF
LMNA
LMOD3
LPIN1
LRP4
LRSAM1
MAG
MARS
MARS2
MED25
MEGF10
MFN2
MICU1
MLTK
MME
MORC2
MPZ
MRE11A
MSTN
MSTO1
MTM1
MTMR2
MTPAP
MUSK
MYBPC3
MYF6
MYH2
MYH3
MYH7
MYH8
MYL1
MYL2
MYO18B
MYO9A
MYOT
MYPN
NAGLU
NDRG1
NEB
NEFH
NEFL
NGF
NIPA1
NOP56
NT5C2
NTRK1
OBSCN
OPA1
ORAI1
PABPN1
PAX7
PDK3
PDYN
PEX7
PFKM
PGAM2
PGK1
PGM1
PHKA1
PHOX2A
PHYH
PIP5K1C
PLEC
PLEKHG5
PLP1
PMP2
PMP22
PNKP
PNPLA2
PNPLA6
PNPLA8
POGLUT1
POLG
POLG2
POMGNT1
POMGNT2
POMK
POMT1
POMT2
POPDC3
PRDM12
PREPL
PRKAG2
PRKCG
PRPS1
PRX
PTPLA
PTRF
PTRH2
PUS1
PYGM
PYROXD1
RAB7A
RAPSN
RBCK1
REEP1
RNF216
RRM2B
RTN2
RYR1
SACS
SBF1
SBF2
SCN10A
SCN11A
SCN4A
SCN9A
SCYL1
sep-09
SEPN1
SETX
SGCA
SGCB
SGCD
SGCE
SGCG
SGPL1
SH3TC2
SIGMAR1
SIL1
SLC12A6
SLC1A3
SLC22A5
SLC25A20
SLC25A4
SLC25A42
SLC33A1
SLC52A2
SLC52A3
SLC5A7
SMCHD1
SNAP25
SNX14
SORD
SPAST
SPEG
SPG11
SPG20
SPG21
SPG7
SPTBN2
SPTBN4
SPTLC1
SPTLC2
SQSTM1
STAC3
STIM1
STUB1
SUCLA2
SURF1
SYNE1
SYNE2
SYT2
TCAP
TDP1
TDP2
TECPR2
TFG
TGM6
THG1L
TIA1
TK2
TMEM240
TMEM43
TMEM5
TMEM65
TMEM8C
TNNI2
TNNT1
TNNT3
TNPO3
TOR1A
TOR1AIP1
TPM2
TPM3
TRAPPC11
TRIM2
TRIM32
TRIM54
TRIM63
TRIP4
TRPC3
TRPV4
TTBK2
TTC19
TTN
TTPA
TTR
TUBB3
UBA1
UBAP1
VAMP1
VCP
VIPAS39
VMA21
VPS13D
VPS37A
VRK1
WARS
WNK1
YARS
YARS2
ZFYVE26
ZFYVE27

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
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Central core disease/maligne hyperthermie RYR1v23.1

1 genen

Genpanel dekking 15X: 99.9 %
RYR1v23.1
10-04-2024
RYR1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
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Congenitale en metabole myasthene syndromen NEM12v22.1

29 genen

Genpanel dekking 15X: 99.9 %
NEM12v22.1
10-04-2024
Archief
AGRN
ALG14
ALG2
CHAT
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
COL13A1
COLQ
DOK7
DPAGT1
GFPT1
GMPPB
LAMB2
LRP4
MUSK
MYO9A
PLEC
PREPL
RAPSN
SCN4A
SLC18A3
SLC25A1
SLC5A7
SNAP25
SYT2
VAMP1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
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Congenitale musculaire dystrofie NEM07v19.1

34 genen

Genpanel dekking 15X: 99.7 %
NEM07v19.1
10-04-2024
Archief
ACTA1
ALG13
B3GALNT2
B3GNT1
CHKB
COL12A1
COL6A1
COL6A2
COL6A3
DAG1
DNM2
DPM1
DPM2
FHL1
FKRP
FKTN
GMPPB
GOLGA2
INPP5K
ISPD
ITGA7
LAMA2
LARGE
LMNA
POMGNT1
POMGNT2
POMK
POMT1
POMT2
SEPN1
TCAP
TMEM5
TRAPPC11
TRIP4

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
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Congenitale myopathie NEM04v22.1

39 genen

Genpanel dekking 15X: 98.6 %
NEM04v22.1
10-04-2024
Archief
ACTA1
ACTN2
BIN1
CACNA1S
CFL2
CNTN1
DNM2
FXR1
HNRNPA1
HRAS
KBTBD13
KLHL40
KLHL41
LMOD3
MEGF10
MLTK
MTM1
MYBPC3
MYH2
MYH7
MYL1
MYL2
MYO18B
MYPN
NEB
PAX7
PTPLA
PYROXD1
RYR1
SEPN1
SPEG
SPTBN4
STAC3
TMEM8C
TNNT1
TPM2
TPM3
TRIM32
TTN

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

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Distale myopathie NEM05v22.1

24 genen

Genpanel dekking 15X: 98.2 %
NEM05v22.1
10-04-2024
Archief
ACTN2
ADSSL1
ANO5
BAG3
CAV3
CRYAB
DES
DNM2
DYSF
FLNC
GNE
KLHL9
KY
LDB3
MATR3
MYH7
MYOT
NEB
SEPN1
SORD
SQSTM1
TIA1
TTN
VCP

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
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Hereditaire spastische paraparese (HSP) NEM26v22.1

63 genen

Genpanel dekking 15X: 100 %
NEM26v22.1
10-04-2024
Archief
ABCD1
AFG3L2
ALDH18A1
ALDH3A2
ALS2
AMPD2
AP4B1
AP4E1
AP4M1
AP4S1
AP5Z1
ARL6IP1
ATL1
ATP13A2
B4GALNT1
BSCL2
C12orf65
C19orf12
CAPN1
CYP2U1
CYP7B1
DDHD1
DDHD2
ENTPD1
ERLIN1
ERLIN2
FA2H
FARS2
GBA2
GJC2
HACE1
HSPD1
IBA57
KIAA0196
KIDINS220
KIF1A
KIF1C
KIF5A
KLC2
L1CAM
MAG
MARS2
MTPAP
NIPA1
NT5C2
PLP1
PNPLA6
REEP1
RTN2
SACS
SLC33A1
SPAST
SPG11
SPG20
SPG21
SPG7
TECPR2
TFG
UBAP1
VAMP1
VPS37A
ZFYVE26
ZFYVE27

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

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Limb-Girdle spierzwakte NEM08v22.1

44 genen

Genpanel dekking 15X: 100 %
NEM08v22.1
10-04-2024
Archief
ANO5
BVES
CAPN3
CAV3
DAG1
DES
DMD
DNAJB6
DPM3
DYSF
EMD
FHL1
FKRP
FKTN
GAA
GMPPB
HNRNPDL
ISPD
LIMS2
LMNA
MYOT
PLEC
POGLUT1
POMGNT1
POMT1
POMT2
POPDC3
PTRF
PYROXD1
SGCA
SGCB
SGCD
SGCG
SMCHD1
SYNE1
SYNE2
TCAP
TMEM43
TNPO3
TOR1AIP1
TRAPPC11
TRIM32
TTN
VCP

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

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Maligne hyperthermie NEM11v17.1

3 genen

Genpanel dekking 15X: 99.9 %
NEM11v17.1
10-04-2024
CACNA1S
RYR1
SCN4A

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

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Metabole myopathie NEM30v19.1

28 genen

Genpanel dekking 15X: 100 %
NEM30v19.1
10-04-2024
ABHD5
ACAD9
ACADVL
AGL
CPT2
ENO3
ETFA
ETFB
ETFDH
FLAD1
GAA
GBE1
GYG1
GYS1
LDHA
LPIN1
PFKM
PGAM2
PGK1
PGM1
PHKA1
PNPLA2
PNPLA8
PRKAG2
PYGM
RBCK1
SLC22A5
SLC25A20

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

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Motor en sensory neuropathie NEM15v22.1

90 genen

Genpanel dekking 15X: 99.9 %
NEM15v22.1
10-04-2024
Archief
AARS
AIFM1
ARHGEF10
ARSA
ATL1
ATL3
ATP1A1
BAG3
BSCL2
CCT5
COX6A1
CTDP1
DCAF8
DGAT2
DHTKD1
DNAJB2
DNM2
DNMT1
DST
DYNC1H1
EGR2
FAM134B
FBLN5
FGD4
FIG4
GAN
GARS
GDAP1
GJB1
GJB3
GLA
GNB4
HARS
HINT1
HK1
HOXD10
HSPB1
HSPB3
HSPB8
IGHMBP2
IKBKAP
INF2
KARS
KIF1A
KIF1B
KIF5A
LITAF
LMNA
LRSAM1
MARS
MFN2
MME
MORC2
MPZ
MTMR2
NAGLU
NDRG1
NEFH
NEFL
NGF
NTRK1
PDK3
PLEKHG5
PMP2
PMP22
PNKP
PRDM12
PRPS1
PRX
RAB7A
SBF1
SBF2
SCN10A
SCN11A
SCN9A
sep-09
SH3TC2
SLC12A6
SORD
SPG11
SPTLC1
SPTLC2
SURF1
TFG
TRIM2
TRPV4
TTR
VCP
VRK1
WNK1
YARS

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

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Motorneuron-ziekten NEM13v22.1

56 genen

Genpanel dekking 15X: 99.9 %
NEM13v22.1
10-04-2024
Archief
AARS
ALS2
ANG
ANXA11
AR
ASAH1
ASCC1
ATP7A
BICD2
BSCL2
CHCHD10
CHMP2B
DCTN1
DNAJB2
DYNC1H1
ERBB3
ERBB4
EXOSC3
EXOSC8
FBXO38
FIG4
FUS
GARS
GLE1
HEXB
HNRNPA1
HNRNPA2B1
HSPB1
HSPB3
IGHMBP2
MATR3
NEFH
OPTN
PFN1
PIP5K1C
PLEKHG5
PRPH
REEP1
SETX
SIGMAR1
SLC52A2
SLC52A3
SLC5A7
SOD1
SPG11
SQSTM1
TARDBP
TRIP4
TRPV4
TUBA4A
UBA1
UBQLN2
VAPB
VCP
VRK1
WARS

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

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Myotone syndromen NEM09v22.1

5 genen

Genpanel dekking 15X: 99.7 %
NEM09v22.1
10-04-2024
Archief
ATP2A1
CAV3
CLCN1
HSPG2
SCN4A

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

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NMZ met aanvalsgewijze/ geprovoceerde verschijnselen NEM28v22.1

15 genen

Genpanel dekking 15X: 100 %
NEM28v22.1
10-04-2024
Archief
CACNA1A
CACNA1S
CLCN1
KCNA1
KCNE1
KCNE2
KCNE3
KCNH2
KCNJ18
KCNJ2
KCNQ1
OBSCN
RYR1
SCN4A
SCN5A

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Overige neuromusculaire ziekten NEM20v19.1

34 genen

Genpanel dekking 15X: 99.9 %
NEM20v19.1
10-04-2024
Archief
AIFM1
C10orf2
CASQ1
CHCHD10
CNTNAP1
FAM111B
FASTKD2
IKBKAP
KIF21A
MYH3
MYH8
OPA1
ORAI1
PHOX2A
POLG
POLG2
PTRH2
PUS1
RRM2B
SGCE
SLC25A4
SLC25A42
STIM1
SUCLA2
SYNE1
TK2
TMEM65
TNNI2
TNNT3
TOR1A
TPM2
TTR
TUBB3
YARS2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

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Periodieke paralyse en ionkanaal spierziekten NEM10v22.1

12 genen

Genpanel dekking 15X: 100 %
NEM10v22.1
10-04-2024
Archief
CACNA1A
CACNA1S
CLCN1
KCNA1
KCNE1
KCNE1L
KCNE2
KCNE3
KCNJ18
KCNJ2
KCNJ5
SCN4A

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Scapulo-peroneale syndromen NEM25v16.1

13 genen

Genpanel dekking 15X: 100 %
NEM25v16.1
10-04-2024
CAPN3
DES
EMD
FHL1
GAA
LAMP2
LMNA
MYH7
PYGM
SYNE1
SYNE2
TMEM43
TRPV4

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

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Nierziekten

Alport syndroom, brede differentiaal diagnose NEF23v21.1

22 genen

Genpanel dekking 15X: 99.9 %
NEF23v21.1
10-04-2024
Archief
ACTN4
C3
CD2AP
CFH
CFHR5
COL4A1
COL4A3
COL4A4
COL4A5
FAT1
FN1
INF2
ITGB4
LAMA5
LMX1B
MYH9
MYO1E
NPHS1
NPHS2
SLC7A7
TRPC6
WT1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

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Alport syndroom, klassiek NEF01v16.1

3 genen

Genpanel dekking 15X: 99.9 %
NEF01v16.1
10-04-2024
COL4A3
COL4A4
COL4A5

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Atypisch hemo-lytisch uremisch syndroom (aHUS) / thrombotische microangiopathie NEF07v23.1

15 genen

Genpanel dekking 15X: 99 %
NEF07v23.1
10-04-2024
Archief
ADAMTS13
C1GALT1C1
C3
CD46
CFB
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFI
DGKE
MMACHC
PRDX1
THBD

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

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Congenital anomalies of the kidney and urinary tract (CAKUT) NEF03v23.2

119 genen

Genpanel dekking 15X: 99.8 %
NEF03v23.2
10-04-2024
Archief
ACE
ACTA2
ACTG2
AGT
AGTR1
BMP4
BNC2
CBWD1
CENPF
CEP55
CHD1L
CHD7
CHRM3
CHRNA3
COQ7
CTU2
DACT1
DHCR7
DOCK4
DSTYK
EVX1
EYA1
FAM58A
FGF20
FGF8
FOXC1
FOXF1
FRAS1
FREM1
FREM2
GATA3
GDF6
GDNF
GFRA1
GLI3
GPC3
GREB1L
GREM1
GRIP1
HAAO
HNF1B
HOXA10
HOXA13
HOXD13
HPSE2
HSPA6
ISL1
ITGA8
ITGB4
JAG1
KAL1
KCTD1
KDM2B
KDM6A
KIF14
KMT2D
KYNU
LHX1
LIFR
LMOD1
LPP
LRIG2
LRP10
LRP4
MKKS
MYH11
MYLK
MYOCD
NAALADL2
NADSYN1
NCAPG2
NIPBL
NOTCH2
NPHP1
NPHP3
NPHP4
NPNT
NRIP1
PAX2
PAX8
PBX1
PLVAP
RBM8A
REN
RET
ROBO1
ROBO2
ROR2
SALL1
SALL4
SIX1
SIX2
SIX5
SKAP2
SLIT2
SLIT3
SOX11
SOX17
SRGAP1
STRA6
TBC1D1
TBX18
TBX6
TFAP2A
TMEM260
TNXB
TP63
TRAP1
TSHZ3
TXNL4A
UMOD
UPK3A
WBP11
WNT4
WNT9B
WT1
ZEB2
ZIC3
ZMYM2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

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Diabetes insipidus, nefrogeen en neurohypofyseaal NEF25v16.1

3 genen

Genpanel dekking 15X: 99.8 %
NEF25v16.1
10-04-2024
AQP2
AVP
AVPR2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Electrolyten stoornis (incl. Bartter syndr., Gitelman syndr. en hypomagnesemie) NEF09v23.1

38 genen

Genpanel dekking 15X: 100 %
NEF09v23.1
10-04-2024
Archief
ATP1A1
BSND
CACNA1S
CASR
CLCN5
CLCNKA
CLCNKB
CLDN10
CLDN16
CLDN19
CNNM2
DGAT1
EGF
EPCAM
FXYD2
GUCY2C
HNF1B
KCNJ1
KCNJ10
KCNJ16
MAGED2
MYO5B
NEUROG3
PCBD1
RRAGD
SARS2
SCN4A
SCNN1A
SCNN1B
SCNN1G
SLC12A1
SLC12A3
SLC26A1
SLC26A3
SLC41A1
SLC9A3
SPINT2
TRPM6

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Erfelijke nierziekte (incl. niertumoren). NB: MUC1 VNTR Cytosine insertie doorgaans niet aantoonbaar. NEF00v23.1

527 genen

Genpanel dekking 15X: 99.8 %
NEF00v23.1
10-04-2024
Archief
ACE
ACTA2
ACTG2
ACTN4
ADAMTS13
ADAMTS9
ADCK3
ADCK4
ADCY10
AGK
AGT
AGTR1
AGXT
AHI1
ALDOB
ALG1
ALG5
ALG6
ALG8
ALG9
ALMS1
ALPL
AMN
ANKFY1
ANKS3
ANKS6
ANLN
AP2S1
APOA1
APOA2
APOC2
APOE
APOL1
APRT
AQP2
ARHGDIA
ARL13B
ARL3
ARL6
ARMC9
ARSA
ATP1A1
ATP6V0A4
ATP6V1B1
ATP7B
ATXN10
AVIL
AVP
AVPR2
B2M
B9D1
B9D2
BAP1
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCS1L
BMP4
BMPR2
BNC2
BSND
C14orf142
C1GALT1C1
C2CD3
C3
C5orf42
C8orf37
CA2
CACNA1D
CACNA1H
CACNA1S
CASR
CBWD1
CBY1
CC2D2A
CCDC114
CCDC28B
CD151
CD2AP
CD46
CDC73
CDK20
CDKN1C
CENPF
CEP104
CEP120
CEP164
CEP290
CEP41
CEP55
CEP83
CFB
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CHD1L
CHD7
CHRM3
CHRNA3
CLCN2
CLCN5
CLCNKA
CLCNKB
CLDN10
CLDN16
CLDN19
CNNM2
COL4A1
COL4A3
COL4A4
COL4A5
COQ2
COQ4
COQ6
COQ7
COQ9
COX10
CPT2
CRB2
CRKL
CSPP1
CTNS
CTU2
CUBN
CUL3
CYP11B1
CYP11B2
CYP17A1
CYP24A1
CYP27B1
CYP2R1
CYP3A4
DAAM2
DACT1
DCDC2
DDX59
DGAT1
DGKE
DHCR7
DICER1
DLC1
DLG5
DMP1
DNAJB11
DOCK4
DST
DSTYK
DYNC2H1
DYNC2LI1
DZIP1L
E2F3
EGF
EHHADH
EMP2
ENPP1
EPCAM
ERCC6
ERCC8
EVC
EVC2
EVX1
EXOC8
EYA1
FAH
FAHD2A
FAM111A
FAM134B
FAM149B1
FAM179B
FAM20A
FAM20C
FAM58A
FAN1
FAT1
FBXL4
FGA
FGF20
FGF23
FGF8
FGFR1
FH
FLCN
FN1
FOXC1
FOXC2
FOXF1
FOXI1
FRAS1
FREM1
FREM2
FXYD2
G6PC
GALNT3
GALT
GANAB
GAPVD1
GATA3
GATM
GCM2
GDF6
GDNF
GFRA1
GLA
GLI3
GLIS2
GLIS3
GNA11
GNAS
GPC3
GPC5
GREB1L
GREM1
GRHPR
GRIP1
GSN
GUCY2C
HAAO
HNF1A
HNF1B
HNF4A
HOGA1
HOXA10
HOXA13
HOXD13
HPRT1
HPSE2
HRAS
HSD11B2
HSPA6
HYLS1
ICK
IFT122
IFT140
IFT172
IFT27
IFT43
IFT52
IFT57
IFT74
IFT80
IFT81
IKBKAP
IL1RAP
INF2
INPP5E
INTU
INVS
IQCB1
ISL1
ITGA3
ITGA8
ITGB4
ITSN1
ITSN2
JAG1
KAL1
KANK1
KANK2
KANK4
KCNJ1
KCNJ10
KCNJ16
KCNJ5
KCTD1
KCTD3
KDM2B
KDM6A
KIAA0556
KIAA0586
KIAA0753
KIF14
KIF3B
KIF7
KIRREL
KL
KLHL3
KMT2D
KRAS
KYNU
LAGE3
LAMA5
LAMB2
LCAT
LHX1
LIFR
LMNA
LMOD1
LMX1B
LPP
LRIG2
LRP10
LRP2
LRP4
LRP5
LYZ
LZTFL1
MAFB
MAGED2
MAGI2
MAP7D3
MAPKBP1
MET
MKKS
MKS1
MMACHC
MOCOS
MTR
MTRR
MTX2
MUC1
MYH11
MYH9
MYLK
MYO1E
MYO5B
MYOCD
NAALADL2
NADSYN1
NCAPG2
NEK1
NEK8
NEU1
NEUROG3
NGF
NIPBL
NOS1AP
NOTCH2
NPHP1
NPHP3
NPHP4
NPHS1
NPHS2
NPNT
NR3C1
NR3C2
NRAS
NRIP1
NUP107
NUP133
NUP160
NUP205
NUP85
NUP93
NXF5
OCRL
OFD1
OSGEP
OXGR1
PAX2
PAX8
PBX1
PCBD1
PCM1
PDE6D
PDSS1
PDSS2
PHEX
PIBF1
PKD1
PKD2
PKHD1
PLCE1
PLVAP
PMM2
POC1B
PODXL
PRDM12
PRDX1
PRKCSH
PSAP
PTEN
PTH1R
PTPRO
PYGM
RBM8A
REN
RERE
RET
RICTOR
RMND1
ROBO1
ROBO2
ROR2
RPGRIP1
RPGRIP1L
RRAGD
RRM2B
SALL1
SALL4
SARS2
SCARB2
SCLT1
SCN11A
SCN4A
SCNN1A
SCNN1B
SCNN1G
SDCCAG8
SDHB
SEC61A1
SEC61B
SEC63
SGPL1
SIX1
SIX2
SIX5
SKAP2
SLC12A1
SLC12A3
SLC16A12
SLC19A2
SLC22A12
SLC26A1
SLC26A3
SLC2A2
SLC2A9
SLC34A1
SLC34A3
SLC36A2
SLC37A4
SLC3A1
SLC41A1
SLC4A1
SLC4A4
SLC5A2
SLC6A19
SLC6A20
SLC7A7
SLC7A9
SLC9A3
SLC9A3R1
SLIT2
SLIT3
SMARCAL1
SOX11
SOX17
SPINT2
SPTLC1
SPTLC2
SRGAP1
STRA6
STRADA
STX16
SUFU
SYNPO
TBC1D1
TBC1D8B
TBCE
TBX18
TBX6
TCTEX1D2
TCTN1
TCTN2
TCTN3
TENC1
TFAP2A
THBD
TMEM107
TMEM138
TMEM216
TMEM218
TMEM231
TMEM237
TMEM260
TMEM67
TMEM72
TNXB
TP53RK
TP63
TPRKB
TRAF3IP1
TRAP1
TRIM32
TRIM8
TRPC6
TRPM6
TRPM7
TSC1
TSC2
TSHZ3
TTC21B
TTC8
TTR
TUBB4B
TULP3
TXNDC15
TXNL4A
UMOD
UPK3A
UQCC2
VDR
VHL
VIPAS39
VPS33B
WBP11
WDPCP
WDR19
WDR34
WDR35
WDR60
WDR72
WDR73
WNK1
WNK4
WNT4
WNT9B
WT1
XDH
XPNPEP3
XPO5
YRDC
ZEB2
ZIC3
ZMPSTE24
ZMYM2
ZNF365
ZNF423

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Gitelman syndroom S_2A3v23.1

1 genen

Genpanel dekking 15X: 100 %
S_2A3v23.1
10-04-2024
SLC12A3

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Glomerulopathie met fibronectine depositie FN1v23.1

1 genen

Genpanel dekking 15X: 100 %
FN1v23.1
10-04-2024
FN1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Hypertensie / Pseudo-hypoaldostero-nisme NEF15v21.1

21 genen

Genpanel dekking 15X: 100 %
NEF15v21.1
10-04-2024
Archief
BMPR2
CACNA1D
CACNA1H
CLCN2
CUL3
CYP11B1
CYP11B2
CYP17A1
HSD11B2
KCNJ5
KLHL3
MTX2
NR3C1
NR3C2
SARS2
SCNN1A
SCNN1B
SCNN1G
STX16
WNK1
WNK4

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Hypertensie en brachydactylie syndroom/Bilginturan syndroom PDE3Av23.1

1 genen

Genpanel dekking 15X: 100 %
PDE3Av23.1
10-04-2024
PDE3A

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Hyperuricemie / uricosurie NEF08v21.1

14 genen

Genpanel dekking 15X: 100 %
NEF08v21.1
10-04-2024
Archief
ALDOB
ATP7B
CTNS
G6PC
GALT
HPRT1
MOCOS
PYGM
REN
SARS2
SLC22A12
SLC2A9
SLC37A4
UMOD

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Hypoparathyroidie, doofheid en renale dysplasie syndroom (HDR) GATA3v23.1

1 genen

Genpanel dekking 15X: 100 %
GATA3v23.1
10-04-2024
GATA3

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Interstitiële longfibrose en congenitaal nefrotisch syndroom ITGA3v23.1

1 genen

Genpanel dekking 15X: 100 %
ITGA3v23.1
10-04-2024
ITGA3

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Jong nierfalen, CKD-Y (inclusief PKD1 en PKD2). NB: MUC1 VNTR Cytosine insertie doorgaans niet aantoonbaar. NEF24v23.1

260 genen

Genpanel dekking 15X: 99.7 %
NEF24v23.1
10-04-2024
Archief
ACE
ACTG2
ACTN4
ADAMTS9
ADCK4
AGT
AGTR1
AGXT
AHI1
ALG1
ALMS1
AMN
ANKS6
ANLN
APOA1
APOA2
APOC2
APOE
APOL1
APRT
ARHGDIA
ARL13B
ARL6
ARMC9
ATXN10
AVIL
B2M
B9D1
B9D2
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCS1L
BMPR2
C1GALT1C1
C3
C5orf42
C8orf37
CACNA1D
CACNA1H
CC2D2A
CD151
CD2AP
CD46
CDK20
CEP104
CEP164
CEP290
CEP41
CEP83
CFB
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CHD7
CLCN2
CLCN5
COL4A3
COL4A4
COL4A5
COQ2
COQ6
CRB2
CSPP1
CTNS
CUBN
CUL3
CYP11B1
CYP11B2
CYP17A1
DAAM2
DACT1
DCDC2
DGKE
DLC1
DNAJB11
DSTYK
E2F3
EMP2
EYA1
FAM149B1
FAM179B
FAN1
FAT1
FGA
FN1
FOXC2
FRAS1
FREM1
FREM2
GANAB
GAPVD1
GATA3
GATM
GLA
GLIS2
GRHPR
GRIP1
GSN
HNF1B
HOGA1
HPSE2
HSD11B2
HYLS1
IFT27
IFT74
IFT81
IL1RAP
INF2
INPP5E
INVS
IQCB1
ITGA3
ITGA8
ITGB4
ITSN1
ITSN2
JAG1
KANK1
KANK2
KANK4
KCNJ5
KIAA0556
KIAA0586
KIF3B
KIRREL
KLHL3
LAMB2
LCAT
LMNA
LMX1B
LRIG2
LYZ
LZTFL1
MAFB
MAGI2
MAP7D3
MAPKBP1
MKKS
MKS1
MMACHC
MOCOS
MTR
MTRR
MTX2
MUC1
MYH11
MYH9
MYO1E
NEK8
NOS1AP
NOTCH2
NPHP1
NPHP3
NPHP4
NPHS1
NPHS2
NR3C1
NR3C2
NUP107
NUP133
NUP160
NUP205
NUP85
NUP93
NXF5
OCRL
OFD1
OSGEP
PAX2
PBX1
PCM1
PDSS1
PDSS2
PIBF1
PKD1
PKD2
PKHD1
PLCE1
PMM2
POC1B
PODXL
PTPRO
REN
RMND1
ROBO2
RPGRIP1L
RRM2B
SALL1
SARS2
SCARB2
SCNN1A
SCNN1B
SCNN1G
SDCCAG8
SEC61A1
SGPL1
SIX1
SIX5
SLC22A12
SLC2A9
SLC3A1
SLC41A1
SLC4A1
SLC7A7
SLC7A9
SMARCAL1
SOX17
STX16
TBC1D8B
TBX18
TCTN1
TCTN2
TCTN3
TENC1
TMEM107
TMEM138
TMEM216
TMEM231
TMEM237
TMEM67
TMEM72
TNXB
TP53RK
TPRKB
TRAF3IP1
TRAP1
TRIM32
TRIM8
TRPC6
TTC21B
TTC8
TTR
TULP3
UMOD
VIPAS39
VPS33B
WDPCP
WDR19
WDR35
WDR60
WDR73
WNK1
WNK4
WT1
XDH
XPNPEP3
YRDC
ZMPSTE24
ZNF423

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Nefrocalcinose / nefrolithiase NEF10v23.1

66 genen

Genpanel dekking 15X: 100 %
NEF10v23.1
10-04-2024
Archief
ADCY10
AGK
AGXT
ALDOB
AP2S1
APRT
ATP6V0A4
ATP6V1B1
ATP7B
BSND
CA2
CASR
CLCN5
CLCNKB
CLDN10
CLDN16
CLDN19
CTNS
CYP24A1
DMP1
ENPP1
FAM20A
FGF23
FOXI1
G6PC
GALT
GNA11
GRHPR
HNF4A
HOGA1
HPRT1
KCNJ1
KL
MAGED2
MOCOS
OCRL
OXGR1
PHEX
PTH1R
SCNN1A
SCNN1B
SCNN1G
SLC12A1
SLC22A12
SLC26A1
SLC2A9
SLC34A1
SLC34A3
SLC36A2
SLC37A4
SLC3A1
SLC4A1
SLC6A19
SLC6A20
SLC7A9
SLC9A3R1
STRADA
STX16
TRPM6
VDR
VIPAS39
VPS33B
WDR72
WNK4
XDH
ZNF365

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Nefrotisch syndr. (NPHS)/ focale segmentele glomerulosclerose (FSGS) NEF11v23.1

106 genen

Genpanel dekking 15X: 99.9 %
NEF11v23.1
10-04-2024
Archief
ACTN4
ADCK3
ADCK4
ALG1
ALMS1
AMN
ANKFY1
ANLN
APOA1
APOE
APOL1
ARHGDIA
AVIL
B2M
C14orf142
CD151
CD2AP
CDK20
CFH
CLCN5
COL4A3
COL4A4
COL4A5
COQ2
COQ4
COQ6
COQ7
COQ9
CRB2
CUBN
DAAM2
DGKE
DLC1
E2F3
EMP2
ERCC6
ERCC8
FAT1
FGA
FN1
FOXC2
GAPVD1
GLA
GPC5
GSN
HNF1B
IL1RAP
INF2
ITGA3
ITGB4
ITSN1
ITSN2
KANK1
KANK2
KANK4
KIRREL
LAGE3
LAMA5
LAMB2
LCAT
LMNA
LMX1B
LYZ
MAFB
MAGI2
MTR
MYH9
MYO1E
NOS1AP
NPHP4
NPHS1
NPHS2
NUP107
NUP133
NUP160
NUP205
NUP85
NUP93
NXF5
OCRL
OSGEP
PAX2
PDSS1
PDSS2
PLCE1
PMM2
PODXL
PTPRO
SCARB2
SEC61A1
SGPL1
SLC7A7
SMARCAL1
SYNPO
TBC1D8B
TENC1
TP53RK
TPRKB
TRIM8
TRPC6
TTC21B
WDR73
WT1
XPO5
YRDC
ZMPSTE24

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Nierfalen op kinderleeftijd, CKD-kids (inclusief PKD1 en PKD2) NEF27v23.1

360 genen

Genpanel dekking 15X: 99.8 %
NEF27v23.1
10-04-2024
ACE
ACTG2
ACTN4
ADAMTS9
ADCK3
ADCK4
AGT
AGTR1
AGXT
AHI1
ALG1
ALG5
ALG6
ALG8
ALG9
ALMS1
AMN
ANKFY1
ANKS3
ANKS6
ANLN
APOA1
APOA2
APOC2
APOE
APOL1
APRT
ARHGDIA
ARL13B
ARL3
ARL6
ARMC9
ATP6V0A4
ATP6V1B1
ATXN10
AVIL
B2M
B9D1
B9D2
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCS1L
BMPR2
BNC2
C14orf142
C1GALT1C1
C2CD3
C3
C5orf42
C8orf37
CACNA1D
CACNA1H
CBWD1
CBY1
CC2D2A
CCDC114
CCDC28B
CD151
CD2AP
CD46
CDC73
CDK20
CDKN1C
CENPF
CEP104
CEP120
CEP164
CEP290
CEP41
CEP55
CEP83
CFB
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CHD1L
CHD7
CHRNA3
CLCN2
CLCN5
CLDN10
COL4A1
COL4A3
COL4A4
COL4A5
COQ2
COQ4
COQ6
COQ7
COQ9
CPT2
CRB2
CSPP1
CTNS
CUBN
CUL3
CYP11B1
CYP11B2
CYP17A1
DAAM2
DACT1
DCDC2
DDX59
DGKE
DHCR7
DICER1
DLC1
DLG5
DNAJB11
DSTYK
DYNC2H1
DYNC2LI1
DZIP1L
E2F3
EMP2
ERCC6
ERCC8
EVC
EVC2
EXOC8
EYA1
FAM149B1
FAM179B
FAM58A
FAN1
FAT1
FGA
FGF20
FN1
FOXC2
FRAS1
FREM1
FREM2
GANAB
GAPVD1
GATA3
GATM
GDF6
GFRA1
GLA
GLIS2
GLIS3
GPC3
GPC5
GREB1L
GRHPR
GRIP1
GSN
HNF1B
HOGA1
HOXA13
HPSE2
HSD11B2
HYLS1
ICK
IFT122
IFT140
IFT172
IFT27
IFT43
IFT52
IFT57
IFT74
IFT80
IFT81
IL1RAP
INF2
INPP5E
INTU
INVS
IQCB1
ITGA3
ITGA8
ITGB4
ITSN1
ITSN2
JAG1
KAL1
KANK1
KANK2
KANK4
KCNJ5
KCTD1
KIAA0556
KIAA0586
KIAA0753
KIF14
KIF3B
KIF7
KIRREL
KLHL3
LAGE3
LAMA5
LAMB2
LCAT
LIFR
LMNA
LMOD1
LMX1B
LRIG2
LRP5
LYZ
LZTFL1
MAFB
MAGI2
MAP7D3
MAPKBP1
MKKS
MKS1
MMACHC
MOCOS
MTR
MTRR
MTX2
MUC1
MYH11
MYH9
MYLK
MYO1E
MYOCD
NADSYN1
NCAPG2
NEK1
NEK8
NOS1AP
NOTCH2
NPHP1
NPHP3
NPHP4
NPHS1
NPHS2
NPNT
NR3C1
NR3C2
NUP107
NUP133
NUP160
NUP205
NUP85
NUP93
NXF5
OCRL
OFD1
OSGEP
PAX2
PBX1
PCM1
PDE6D
PDSS1
PDSS2
PIBF1
PKD1
PKD2
PKHD1
PLCE1
PMM2
POC1B
PODXL
PRKCSH
PTPRO
REN
RERE
RMND1
ROBO1
ROBO2
RPGRIP1
RPGRIP1L
RRM2B
SALL1
SARS2
SCARB2
SCLT1
SCNN1A
SCNN1B
SCNN1G
SDCCAG8
SEC61A1
SEC61B
SEC63
SGPL1
SIX1
SIX5
SLC22A12
SLC2A9
SLC3A1
SLC41A1
SLC4A1
SLC7A7
SLC7A9
SLIT2
SMARCAL1
SOX17
STX16
SUFU
SYNPO
TBC1D1
TBC1D8B
TBX18
TCTEX1D2
TCTN1
TCTN2
TCTN3
TENC1
TMEM107
TMEM138
TMEM216
TMEM218
TMEM231
TMEM237
TMEM67
TMEM72
TNXB
TP53RK
TP63
TPRKB
TRAF3IP1
TRAP1
TRIM32
TRIM8
TRPC6
TSC1
TSC2
TTC21B
TTC8
TTR
TULP3
TXNDC15
UMOD
UPK3A
VHL
VIPAS39
VPS33B
WDPCP
WDR19
WDR34
WDR35
WDR60
WDR73
WNK1
WNK4
WNT9B
WT1
XDH
XPNPEP3
XPO5
YRDC
ZIC3
ZMPSTE24
ZNF423

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Renaal Fanconi syndroom NEF16v23.1

34 genen

Genpanel dekking 15X: 99.9 %
NEF16v23.1
10-04-2024
Archief
ALDOB
AMN
ARSA
ATP7B
BCS1L
CLCN5
COQ7
COQ9
COX10
CTNS
CUBN
EHHADH
FAH
FAHD2A
G6PC
GALT
GATM
GLA
HNF4A
LRP2
OCRL
PSAP
RMND1
SLC16A12
SLC19A2
SLC26A1
SLC2A2
SLC34A1
SLC37A4
SLC5A2
SLC6A19
SLC6A20
VIPAS39
VPS33B

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Renale cysten en/of ciliopathieën (incl. Bardet-Biedl syndroom, nefronoftise en Joubert syndroom). NB: MUC1 VNTR Cytosine insertie doorgaans niet aantoonbaar. NEF17v23.2

167 genen

Genpanel dekking 15X: 99.8 %
NEF17v23.2
10-04-2024
Archief
ADAMTS9
AGXT
AHI1
ALG5
ALG6
ALG8
ALG9
ALMS1
ANKS3
ANKS6
ARL13B
ARL3
ARL6
ARMC9
ATP6V0A4
ATP6V1B1
ATXN10
B9D1
B9D2
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
C2CD3
C5orf42
C8orf37
CBY1
CC2D2A
CCDC114
CCDC28B
CDC73
CDKN1C
CENPF
CEP104
CEP120
CEP164
CEP290
CEP41
CEP55
CEP83
CLDN10
COL4A1
COL4A3
COL4A4
COL4A5
CPT2
CRB2
CSPP1
DCDC2
DDX59
DHCR7
DICER1
DLG5
DNAJB11
DYNC2H1
DYNC2LI1
DZIP1L
EVC
EVC2
EXOC8
FAM149B1
FAM179B
FAN1
GANAB
GLIS2
GLIS3
GPC3
HNF1B
HYLS1
ICK
IFT122
IFT140
IFT172
IFT27
IFT43
IFT52
IFT57
IFT74
IFT80
IFT81
INPP5E
INTU
INVS
IQCB1
JAG1
KIAA0556
KIAA0586
KIAA0753
KIF14
KIF3B
KIF7
LRP5
LZTFL1
MAP7D3
MAPKBP1
MKKS
MKS1
MUC1
NCAPG2
NEK1
NEK8
NOTCH2
NPHP1
NPHP3
NPHP4
OFD1
PAX2
PBX1
PCM1
PDE6D
PIBF1
PKD1
PKD2
PKHD1
PMM2
POC1B
PRKCSH
REN
RERE
RMND1
RPGRIP1
RPGRIP1L
SALL1
SCLT1
SDCCAG8
SEC61A1
SEC61B
SEC63
SLC41A1
SLC4A1
SUFU
TBX18
TCTEX1D2
TCTN1
TCTN2
TCTN3
TMEM107
TMEM138
TMEM216
TMEM218
TMEM231
TMEM237
TMEM67
TMEM72
TRAF3IP1
TRIM32
TSC1
TSC2
TTC21B
TTC8
TULP3
TXNDC15
UMOD
VHL
WDPCP
WDR19
WDR34
WDR35
WDR60
XPNPEP3
ZIC3
ZNF423

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Renale cysten op de volwassen leeftijd en autosomaal dominante tubulo-interstitiële nierziekte (ADTKD). NB: MUC1 VNTR Cytosine insertie doorgaans niet aantoonbaar. NEF26v23.1

38 genen

Genpanel dekking 15X: 99.7 %
NEF26v23.1
10-04-2024
Archief
ALG5
ALG6
ALG8
ALG9
ATP6V0A4
ATP6V1B1
CDC73
COL4A1
COL4A3
COL4A4
COL4A5
DNAJB11
GANAB
HNF1B
IFT140
JAG1
LRP5
MAPKBP1
MUC1
NEK8
NOTCH2
NPHP1
OFD1
PAX2
PKD1
PKD2
PKHD1
PRKCSH
REN
SALL1
SEC61A1
SEC61B
SEC63
SLC4A1
TSC1
TSC2
UMOD
VHL

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Renale fosfaat-handling NEF18v21.1

24 genen

Genpanel dekking 15X: 99.9 %
NEF18v21.1
10-04-2024
Archief
ALPL
CLCN5
CYP27B1
CYP2R1
CYP3A4
DMP1
ENPP1
FAH
FAM20C
FGF23
FGFR1
GALNT3
GATM
GNAS
HRAS
KL
KRAS
NRAS
OCRL
PHEX
SLC34A1
SLC34A3
SLC9A3R1
VDR

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Renale tubulaire acidose NEF19v21.1

22 genen

Genpanel dekking 15X: 100 %
NEF19v21.1
10-04-2024
Archief
ATP6V0A4
ATP6V1B1
BSND
CA2
CLCNKB
COQ9
EHHADH
FBXL4
FN1
FOXI1
G6PC
GATM
KCNJ1
SLC12A1
SLC12A3
SLC37A4
SLC4A1
SLC4A4
UQCC2
VIPAS39
VPS33B
WDR72

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Renale tubulaire dysgenesie NEF20v16.1

5 genen

Genpanel dekking 15X: 100 %
NEF20v16.1
10-04-2024
ACE
AGT
AGTR1
REN
UMOD

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Ziekte van Dent (type 1 en type 2) / Lowe syndroom NEF22v16.2

3 genen

Genpanel dekking 15X: 100 %
NEF22v16.2
10-04-2024
CLCN5
CTNS
OCRL

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Obesitas

Cohen syndroom VPS13v23.1

1 genen

Genpanel dekking 15X: 100 %
VPS13v23.1
10-04-2024
Archief
VPS13B

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Obesitas OBE02v22.1

5 genen

Genpanel dekking 15X: 100 %
OBE02v22.1
10-04-2024
Archief
LEP
LEPR
MC4R
PCSK1
POMC

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Overige ziekten

"Idiopathische pulmonaire fibrose (brede differentiaal diagnose; incl. kandidaatgenen) (VERVALLEN)" IPF00v19.1

41 genen

Genpanel dekking 15X: 99.8 %
IPF00v19.1
10-04-2024
ABCA3
ACD
AP3B1
ASAH1
CSF2RA
CSF2RB
CTC1
DKC1
FAM111B
GBA
HPS1
HPS4
ITGA3
LIG4
MARS
NAF1
NKX2-1
NOP10
OBFC1
PARN
POT1
RNF168
RTEL1
SAMD9L
SFTPA1
SFTPA2
SFTPB
SFTPC
SFTPD
SLC34A2
SLC7A7
SMPD1
TEN1
TERC
TERF1
TERF2
TERT
TINF2
TMEM173
USB1
WRAP53

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Amyloidose AMY01v19.1

12 genen

Genpanel dekking 15X: 100 %
AMY01v19.1
10-04-2024
APOA1
APOA2
APOC2
APOC3
B2M
CST3
FGA
GSN
IL31RA
LYZ
OSMR
TTR

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Congenitale diaree DIA00v23.1

72 genen

Genpanel dekking 15X: 100 %
DIA00v23.1
10-04-2024
Archief
ADA
ADAM17
AIRE
ALPI
ANGPTL3
ANKZF1
APOB
CD3D
CD3E
CFTR
CLMP
CYP27A1
DCLRE1C
DGAT1
EPCAM
FLNA
FOXP3
GUCY2C
IL10
IL10RA
IL10RB
IL12RB1
IL21
IL2RA
IL2RG
IL7R
JAK3
LCT
LIPA
MPI
MTTP
MVK
MYO5B
NCF2
NCF4
NEUROG3
NHEJ1
NPC1L1
PCSK1
PCSK9
PLVAP
PNLIP
PNP
PRSS1
PRSS2
PTPRC
RAG1
RAG2
SAR1B
SBDS
SI
SKIV2L
SLC10A2
SLC26A3
SLC2A2
SLC39A4
SLC5A1
SLC7A7
SLC9A3
SPINK1
SPINT2
STAT1
STAT5B
STX3
TCN2
TMPRSS15
TTC37
TTC7A
UBR1
WNT2B
XIAP
ZAP70

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Diarrhea 2, met microvillus atrofie (DIAR2) MYO5Bv23.1

1 genen

Genpanel dekking 15X: 100 %
MYO5Bv23.1
10-04-2024
MYO5B

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Erfelijk angio-oedeem HAE01v21.1

7 genen

Genpanel dekking 15X: 99.9 %
HAE01v21.1
10-04-2024
Archief
ANGPT1
F12
HS3ST6
KNG1
MYOF
PLG
SERPING1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Familiaire partiële lipodystrofie (FPLD) en congenitale gegeneraliseerde lipodystrofie (CGL) LIP01v22.1

11 genen

Genpanel dekking 15X: 100 %
LIP01v22.1
10-04-2024
Archief
AGPAT2
AKT2
BSCL2
CAV1
CIDEC
LIPE
LMNA
PLIN1
PPARG
PTRF
ZMPSTE24

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Geslachtelijke ontwikkelings-stoornissen, niet syndromaal (DSD) DSD00v21.1

38 genen

Genpanel dekking 15X: 99.4 %
DSD00v21.1
10-04-2024
Archief
AKR1C2
AKR1C4
AMH
AMHR2
AR
CBX2
CYB5A
CYP11A1
CYP11B1
CYP17A1
CYP19A1
DHH
DHX37
DMRT1
DMRT2
ESR2
HSD17B3
HSD3B2
LHB
LHCGR
MAMLD1
MAP3K1
NR0B1
NR2F2
NR3C1
NR5A1
POR
PSMC3IP
RSPO1
SOX3
SOX9
SRD5A2
SRY
STAR
TSPYL1
WNT4
WT1
ZFPM2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Interstitiële pulmonale fibrose IPF01v21.1

34 genen

Genpanel dekking 15X: 99.8 %
IPF01v21.1
10-04-2024
ABCA3
ACD
AP3B1
COPA
CSF2RA
CSF2RB
DKC1
DTNBP1
FAM111B
FARSA
FARSB
FOXF1
HPS1
HPS4
ITGA3
MARS
NHP2
NKX2-1
NOP10
OAS1
PARN
POT1
RTEL1
SFTPA1
SFTPA2
SFTPB
SFTPC
TERC
TERT
TINF2
TMEM173
USB1
WRAP53
ZCCHC8

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Neonatale erythrodermie ERY00v17.1

57 genen

Genpanel dekking 15X: 99.8 %
ERY00v17.1
10-04-2024
Archief
ABCA12
ABHD5
ADAM17
ALDH3A2
ALOX12B
ALOXE3
ASS1
ATP7A
BCKDHA
BCKDHB
BTD
BTK
C5
CARD14
CDSN
CERS3
CLDN1
CPS1
CYP4F22
DBT
DCLRE1C
DLD
DSG1
EBP
ELOVL4
ERCC2
ERCC3
GBA
GJB2
GJB6
GTF2H5
HLCS
IL36RN
KIT
KRT1
KRT10
KRT2
LIPN
LOR
MBTPS2
MPLKIP
MUT
NIPAL4
NSDHL
PCCA
PCCB
PNPLA1
POMP
RAG1
RAG2
SLC25A13
SLC30A2
SLC39A4
SPINK5
STS
TBX1
TGM1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Surfactant metabolisme dysfunctie type 3 ABCA3v23.1

1 genen

Genpanel dekking 15X: 100 %
ABCA3v23.1
10-04-2024
ABCA3

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Syndromale geslachtelijke ontwikkelingsstoornissen DSD01v21.2

134 genen

Genpanel dekking 15X: 99.7 %
DSD01v21.2
10-04-2024
Archief
AIRE
AKR1C2
AKR1C4
AMH
AMHR2
AR
ARMC5
ATRX
B9D1
BMP15
C10orf2
CBX2
CDKN1C
CEP41
CHD7
CLPP
CUL4B
CYB5A
CYP11A1
CYP11B1
CYP17A1
CYP19A1
CYP21A2
DHCR7
DHH
DHX37
DMRT1
DMRT2
DUSP6
DYNC2H1
EIF2B5
ERAL1
ESR1
ESR2
FAM58A
FEZF1
FGF17
FGF8
FGFR1
FGFR2
FLRT3
FOXL2
FRAS1
FREM2
FSHB
FSHR
FZD2
GATA4
GDF9
GK
GLI2
GNRH1
GNRHR
GRIP1
HESX1
HFM1
HHAT
HOXA13
HS6ST1
HSD17B3
HSD17B4
HSD3B2
ICK
IL17RD
INPP5E
IRF6
KAL1
KISS1
KISS1R
LARS2
LEP
LEPR
LHB
LHCGR
LHX3
MAMLD1
MAP3K1
MCM5
MCM8
MCM9
MKKS
MKRN3
MYRF
NEK1
NNT
NOBOX
NR0B1
NR2F2
NR3C1
NR5A1
NSMF
PBX1
PCSK1
PLXNA1
PNPLA6
POLE
POR
PPP1R12A
PROK2
PROKR2
PROP1
PSMC3IP
RIPK4
ROR2
RPL10
RSPO1
SAMD9
SEMA3A
SEMA3E
SGPL1
SOHLH1
SOX10
SOX2
SOX3
SOX8
SOX9
SPRY4
SRCAP
SRD5A2
SRY
STAG3
STAR
SYCE1
TAC3
TACR3
TBX3
TOE1
TSPYL1
TWIST2
WDR11
WDR60
WNT4
WT1
ZFPM2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Ziekteomschrijving Interstitiële longziekte op kinderleeftijd (ChILD) IPF02v22.1

58 genen

Genpanel dekking 15X: 99.8 %
IPF02v22.1
10-04-2024
AARS
ABCA3
AP3B1
BLOC1S3
BLOC1S5
BLOC1S6
CCBE1
COPA
CSF2RA
CSF2RB
CTLA4
DTNBP1
ERF
FAM111B
FARSA
FARSB
FAT4
FGFR2
FLNA
FLT4
FOXF1
GATA2
GBA
HPS1
HPS3
HPS4
HPS5
HPS6
IARS
ITCH
ITGA3
KMT2D
LARS
LRBA
MARS
NDNL2
NKX2-1
NPC1
NPC2
OAS1
PSAP
RASGRP1
SCNN1A
SFTPA1
SFTPA2
SFTPB
SFTPC
SLC34A2
SLC7A7
SMPD1
STAT3
STRA6
TBX4
TMEM173
USB1
VARS
XIAP
YARS

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Primaire immuundeficienties

(S)CID PID04v20.1

29 genen

Genpanel dekking 15X: 99.7 %
PID04v20.1
10-04-2024
Archief
ADA
AK2
BCL11B
CD3D
CD3E
CD3G
CD40
CD40LG
CD8A
CORO1A
DCLRE1C
DOCK8
FOXN1
IL2RA
IL2RG
IL7R
JAK3
LIG4
NHEJ1
ORAI1
PNP
PRKDC
PTPRC
RAG1
RAG2
STAT5B
STIM1
TBX1
ZAP70

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

ALPS/ Autoimmunity PID03v17.1

13 genen

Genpanel dekking 15X: 99.4 %
PID03v17.1
10-04-2024
Archief
AIRE
CASP10
CASP8
CTLA4
FADD
FAS
FASLG
FOXP3
IL2RA
ITCH
KRAS
LRBA
NRAS

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Auto-inflammatoir mozaïcisme PID09v24.1

6 genen

Genpanel dekking 15X: 100 %
PID09v24.1
10-04-2024
NLRC4
NLRP3
NOD2
PSTPIP1
TNFRSF1A
UBA1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Autoinflammatoir PID01v22.2

67 genen

Genpanel dekking 15X: 99.9 %
PID01v22.2
10-04-2024
Archief
ACP5
ADAM17
ADAR
ALPK1
AP1S3
C2orf69
CARD14
CDC42
CEBPE
CECR1
COPA
DDX58
DNASE1
DNASE1L3
DNASE2
EMR2
FERMT1
IFIH1
IKZF1
IL10
IL10RA
IL10RB
IL1RN
IL36RN
LACC1
LPIN2
LSM11
MEFV
MVK
NCKAP1L
NCSTN
NLRC4
NLRP1
NLRP12
NLRP3
NOD2
OTULIN
PEPD
PIK3CD
PLCG2
POMP
PRKCD
PSENEN
PSMA3
PSMB4
PSMB8
PSMB9
PSMG2
PSTPIP1
RBCK1
RIPK1
RNASEH2A
RNASEH2B
RNASEH2C
RNF31
SAMHD1
SLC29A3
STAT2
SYK
TMEM173
TNFAIP3
TNFRSF1A
TREX1
TRNT1
UBA1
USP18
WDR1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

B-cel pathologie PID05v16.1

14 genen

Genpanel dekking 15X: 100 %
PID05v16.1
10-04-2024
AICDA
BLNK
BTK
CD19
CD40
CD40LG
CD79A
CD79B
CD81
ICOS
IGLL1
TNFRSF13B
TNFRSF13C
UNG

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Chronische mucocutane candidiasis (CMC) PID07v17.1

7 genen

Genpanel dekking 15X: 100 %
PID07v17.1
10-04-2024
Archief
AIRE
CARD9
IL17F
IL17RA
IL2RA
STAT1
TLR3

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

HLH/Immune dysregulation PID02v22.1

21 genen

Genpanel dekking 15X: 99.7 %
PID02v22.1
10-04-2024
Archief
AP1S3
AP3B1
AP3D1
C19orf40
CD27
CD70
CORO1A
CTPS1
ITK
LYST
MAGT1
PRF1
RAB27A
RASGRP1
RC3H1
RHOG
SH2D1A
STX11
STXBP2
UNC13D
XIAP

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Hyper IgE Syndroom (HIES) PID06v21.1

9 genen

Genpanel dekking 15X: 100 %
PID06v21.1
10-04-2024
CARD11
CARD14
DOCK8
IL6R
IL6ST
PGM3
STAT3
TYK2
ZNF341

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Landelijk hielpriksceen SCID genpanel PID08v23.1

39 genen

Genpanel dekking 15X: 99.8 %
PID08v23.1
10-04-2024
ADA
AK2
B2M
CD247
CD3D
CD3E
CD3G
CD8A
CIITA
CORO1A
DCLRE1C
DOCK2
DOCK8
FCHO1
FOXI3
FOXN1
IL2RG
IL7R
JAK3
LAT
LCK
LIG4
NHEJ1
PAX1
PNP
PRKDC
PTPRC
RAC2
RAG1
RAG2
RFX5
RFXANK
RFXAP
STK4
TAP1
TAP2
TAPBP
TTC7A
ZAP70

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Primaire immuundeficiënties volledig panel PID00v23.1

468 genen

Genpanel dekking 15X: 99.7 %
PID00v23.1
10-04-2024
Archief
ACD
ACP5
ACTB
ADA
ADAM17
ADAR
AGA
AICDA
AIRE
AK2
ALG13
ALPI
ALPK1
ANGPT1
AP1S3
AP3B1
AP3D1
APOL1
ARHGEF1
ARPC1B
ATAD3A
ATG4A
ATM
ATP6AP1
B2M
BACH2
BCL10
BCL11B
BLK
BLM
BLNK
BLOC1S6
BTK
C17orf62
C19orf40
C1QA
C1QB
C1QC
C1R
C1S
C2
C2orf69
C3
C5
C6
C7
C8A
C8B
C8G
C9
CA2
CARD10
CARD11
CARD14
CARD9
CASP10
CASP8
CCBE1
CD19
CD247
CD27
CD28
CD3D
CD3E
CD3G
CD4
CD40
CD40LG
CD46
CD55
CD59
CD70
CD79A
CD79B
CD81
CD8A
CDC42
CDCA7
CDKN2B
CEBPE
CECR1
CFB
CFD
CFH
CFI
CFP
CFTR
CHD7
CHUK
CIB1
CIITA
CLCN7
CLEC4D
CLEC7A
CLPB
COPA
COPG1
CORO1A
CR2
CREBBP
CSF2RA
CSF2RB
CSF3R
CTC1
CTLA4
CTNNBL1
CTPS1
CTSC
CXCR2
CXCR4
CYBA
CYBB
DBR1
DCLRE1B
DCLRE1C
DDX58
DEF6
DGAT1
DHFR
DIAPH1
DKC1
DNAJC21
DNASE1
DNASE1L3
DNASE2
DNMT3B
DOCK2
DOCK8
EFCAB4B
ELANE
ELF4
EPG5
ERBB2IP
ERCC2
ERCC3
ERCC6L2
EXTL3
F12
FADD
FAS
FASLG
FAT4
FCGR3A
FCHO1
FCN3
FERMT1
FERMT3
FNIP1
FOXI3
FOXN1
FOXP3
FPR1
G6PC
G6PC3
G6PD
GATA2
GFI1
GINS1
GJC2
GRHL2
GTF2H5
HAVCR2
HAX1
HCK
HELLS
HMOX1
HS3ST6
HYOU1
ICOS
ICOSLG
IFIH1
IFNAR1
IFNAR2
IFNG
IFNGR1
IFNGR2
IGHM
IGLL1
IKBKB
IKBKG
IKZF1
IKZF2
IKZF3
IL10
IL10RA
IL10RB
IL12B
IL12RB1
IL17F
IL17RA
IL17RC
IL18BP
IL1RN
IL2
IL21
IL21R
IL2RA
IL2RB
IL2RG
IL36RN
IL6R
IL6ST
IL7R
INO80
INSR
IRAK1
IRAK4
IRF2BP2
IRF3
IRF4
IRF7
IRF8
IRF9
ISG15
ITCH
ITGB2
ITK
ITPKB
ITPR3
IVNS1ABP
JAGN1
JAK1
JAK2
JAK3
KDM6A
KMT2A
KMT2D
KNG1
KRAS
LACC1
LAMTOR2
LAT
LCK
LCP2
LIG1
LIG4
LPIN2
LRBA
LRRC8A
LSM11
LYST
MAGT1
MALT1
MAN2B1
MAN2B2
MANBA
MAP1LC3B2
MAP3K14
MAPK8
MASP2
MC2R
MCM10
MCM4
MEFV
MKL1
MOGS
MPEG1
MS4A1
MSN
MTHFD1
MVK
MYD88
MYOF
MYSM1
NBAS
NBN
NCF1
NCF2
NCF4
NCKAP1L
NCSTN
NDNL2
NFAT5
NFE2L2
NFKB1
NFKB2
NFKBIA
NHEJ1
NHP2
NLRC4
NLRP1
NLRP12
NLRP3
NOD2
NOP10
NOS2
NRAS
OAS1
OBFC1
ORAI1
OSTM1
OTULIN
PARN
PAX1
PAX5
PBX1
PCCA
PCCB
PDCD1
PEPD
PGM3
PIGA
PIK3CD
PIK3CG
PIK3R1
PLCG2
PLEKHM1
PLG
PMM2
PNP
POLA1
POLE2
POLR3F
POMP
POT1
POU2AF1
PRF1
PRKCD
PRKDC
PRPS1
PSENEN
PSMA3
PSMB4
PSMB8
PSMB9
PSMG2
PSTPIP1
PTPN22
PTPRC
PTRF
RAB27A
RAC2
RAG1
RAG2
RANBP2
RASGRP1
RASGRP2
RBCK1
RC3H1
RECQL4
REL
RELA
RELB
RFX5
RFXANK
RFXAP
RHOG
RHOH
RIPK1
RLTPR
RNASEH2A
RNASEH2B
RNASEH2C
RNF168
RNF31
RORC
RPA1
RPSA
RSPH9
RTEL1
SAMD9
SAMD9L
SAMHD1
SASH3
SAT1
SBDS
SEC61A1
SEMA3E
SERAC1
SERPING1
SH2B3
SH2D1A
SH3BP2
SH3KBP1
SKIV2L
SLC29A3
SLC35A1
SLC35C1
SLC37A4
SLC39A4
SLC39A7
SLC46A1
SLC7A7
SMARCAL1
SMARCD2
SNX10
SOCS1
SOCS4
SP110
SPI1
SPINK5
SPPL2A
SRP72
STAT1
STAT2
STAT3
STAT4
STAT5B
STAT6
STIM1
STK4
STX11
STXBP2
SYK
TAP1
TAP2
TAPBP
TAZ
TBX1
TBX21
TCF3
TCIRG1
TCN2
TERT
TET2
TFRC
TGFB1
THBD
TICAM1
TINF2
TIRAP
TLR3
TLR4
TLR7
TLR8
TMC6
TMC8
TMEM173
TNFAIP3
TNFRSF11A
TNFRSF13B
TNFRSF13C
TNFRSF1A
TNFRSF4
TNFRSF9
TNFSF11
TNFSF12
TNFSF13
TOM1
TOP2B
TPP2
TRAC
TRAF3
TRAF3IP2
TREX1
TRIM22
TRNT1
TTC37
TTC7A
TYK2
UBA1
UNC13D
UNC93B1
UNG
USB1
USP18
VAV1
VPS13B
VPS45
WAS
WDR1
WIPF1
WRAP53
XIAP
ZAP70
ZBTB24
ZNF341
ZNFX1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

VEXAS syndroom UBA1v24.1

1 genen

Genpanel dekking 15X: 100 %
UBA1v24.1
10-04-2024
UBA1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Syndromaal microphthalmia 2 / Oculofaciocardiodentaal syndroom

Verstandelijke beperking: syndromaal/niet syndromaal

Lesch-Nyhan syndroom, (LNS) HPRTv23.1

1 genen

Genpanel dekking 15X: 100 %
HPRTv23.1
10-04-2024
HPRT1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Rett syndroom, atypisch CDKL5v23.1

1 genen

Genpanel dekking 15X: 99.9 %
CDKL5v23.1
10-04-2024
CDKL5

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Rett syndroom, congenitale variant FOXG1v23.1

1 genen

Genpanel dekking 15X: 99 %
FOXG1v23.1
10-04-2024
FOXG1

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Rett syndroom, RTT RETTv23.1

1 genen

Genpanel dekking 15X: 100 %
RETTv23.1
10-04-2024
MECP2

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Verstandelijke beperking VBE01v23.1

1601 genen

Genpanel dekking 15X: 99.8 %
VBE01v23.1
10-04-2024
Archief
AAAS
AARS
AARS2
AASS
ABAT
ABCA2
ABCC9
ABCD1
ABCD4
ABHD16A
ABHD5
ACAD9
ACADM
ACADS
ACAT1
ACO2
ACOX1
ACSF3
ACSL4
ACTB
ACTG1
ACTL6A
ACTL6B
ACY1
ADAM22
ADAR
ADARB1
ADAT3
ADCK3
ADD1
ADD3
ADK
ADNP
ADPRHL2
ADSL
AFF2
AFF3
AFF4
AFG3L2
AGA
AGMO
AGO1
AGO2
AGPAT2
AGPS
AGTPBP1
AHCY
AHDC1
AHI1
AIFM1
AIMP1
AIMP2
AKT3
ALDH18A1
ALDH3A2
ALDH4A1
ALDH5A1
ALDH7A1
ALG1
ALG11
ALG12
ALG13
ALG2
ALG3
ALG6
ALG8
ALG9
ALKBH8
ALMS1
ALX4
AMER1
AMPD2
AMT
ANK3
ANKH
ANKRD11
ANKRD17
AP1B1
AP1G1
AP1S1
AP1S2
AP2M1
AP3B1
AP3B2
AP4B1
AP4E1
AP4M1
AP4S1
APC2
APOA1BP
APOPT1
APTX
ARCN1
ARF1
ARFGEF1
ARFGEF2
ARG1
ARHGAP31
ARHGEF9
ARID1A
ARID1B
ARID2
ARL13B
ARL3
ARL6
ARMC9
ARPC4
ARSA
ARSE
ARV1
ARX
ASAH1
ASH1L
ASL
ASNS
ASPA
ASPM
ASS1
ASXL1
ASXL2
ASXL3
ATAD3A
ATG7
ATIC
ATN1
ATP13A2
ATP1A1
ATP1A2
ATP1A3
ATP2A2
ATP2B1
ATP5A1
ATP6AP2
ATP6V0A1
ATP6V0A2
ATP6V1A
ATP6V1B2
ATP7A
ATP8A2
ATP9A
ATR
ATRX
AUH
AUTS2
B3GALNT2
B3GALT6
B3GALTL
B3GNT1
B4GALNT1
B4GALT1
B4GALT7
B9D1
BAP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCAP31
BCAS3
BCKDHA
BCKDHB
BCKDK
BCL11A
BCL11B
BCOR
BCORL1
BCS1L
BLM
BLOC1S1
BMP4
BOLA3
BPTF
BRAF
BRAT1
BRD4
BRF1
BRPF1
BRSK2
BRWD3
BSCL2
BTD
BUB1B
BZRAP1
C10orf2
C12orf4
C12orf57
C12orf65
C15orf57
C17orf89
C19orf70
C2CD3
C2orf69
C5orf42
CA2
CA5A
CA8
CACNA1A
CACNA1B
CACNA1C
CACNA1D
CACNA1E
CACNA1G
CACNA1I
CACNA2D1
CACNA2D2
CAD
CAMK2A
CAMK2B
CAMK2G
CAMK4
CAMTA1
CANT1
CAPN15
CAPRIN1
CAPZA2
CARKD
CARS
CARS2
CASC5
CASK
CBL
CBS
CBY1
CC2D1A
CC2D2A
CCBE1
CCDC115
CCDC174
CCDC22
CCDC23
CCDC47
CCDC82
CCDC88C
CCND2
CDC42
CDC42BPB
CDC6
CDH11
CDH15
CDH2
CDK10
CDK13
CDK19
CDK5RAP2
CDK8
CDKL5
CDKN1C
CDON
CELF2
CENPF
CENPJ
CEP104
CEP120
CEP135
CEP152
CEP290
CEP41
CEP57
CEP83
CEP85L
CHAMP1
CHD1
CHD2
CHD3
CHD4
CHD5
CHD7
CHD8
CHKA
CHKB
CHKB-CPT1B
CHMP1A
CIC
CIT
CKAP2L
CLCN2
CLCN3
CLCN4
CLCN6
CLDN11
CLN3
CLN5
CLN6
CLN8
CLP1
CLPB
CLTC
CNKSR2
CNNM2
CNOT1
CNOT2
CNOT3
CNTNAP1
CNTNAP2
COASY
COG1
COG4
COG5
COG6
COG7
COG8
COL4A3BP
COLEC11
COPB1
COPB2
COQ2
COQ4
COQ9
COX10
COX15
COX6B1
CPE
CPLX1
CPS1
CRADD
CRBN
CREBBP
CRIPT
CRLS1
CSDE1
CSF1R
CSNK1G1
CSNK2A1
CSNK2B
CSPP1
CSTB
CTBP1
CTC1
CTCF
CTDP1
CTNNA2
CTNNB1
CTNND1
CTNND2
CTR9
CTSA
CTSD
CUBN
CUL3
CUL4B
CUX1
CUX2
CWC27
CWF19L1
CXorf56
CYB5R3
CYFIP2
CYP2U1
D2HGDH
DAG1
DAK
DARS
DARS2
DBT
DCAF17
DCC
DCHS1
DCPS
DCX
DDB1
DDC
DDHD2
DDOST
DDX11
DDX23
DDX3X
DDX59
DDX6
DEAF1
DEGS1
DENND5A
DEPDC5
DHCR24
DHCR7
DHDDS
DHFR
DHPS
DHTKD1
DHX30
DHX37
DIAPH1
DIP2B
DIS3L2
DKC1
DLAT
DLD
DLG3
DLG4
DLL1
DMXL2
DNAJC12
DNAJC19
DNM1
DNM1L
DNMT3A
DNMT3B
DOCK3
DOCK6
DOCK7
DOHH
DOLK
DONSON
DPAGT1
DPF2
DPH1
DPM1
DPP6
DPYD
DPYSL5
DTYMK
DYM
DYNC1H1
DYNC1I2
DYRK1A
EARS2
EBF3
EBP
ECHS1
EDEM3
EED
EEF1A2
EEF1B2
EEF1D
EFTUD2
EHMT1
EIF2AK2
EIF2AK3
EIF2S3
EIF3F
EIF4A3
EIF5A
ELAC2
ELOVL4
ELP2
EMC1
EMC10
EMG1
EML1
EMX2
ENTPD1
EP300
EPG5
EPRS
ERCC1
ERCC2
ERCC3
ERCC5
ERCC6
ERCC6L2
ERCC8
ERF
ERLIN2
ESCO2
ETHE1
EXOSC2
EXOSC3
EXOSC5
EXOSC8
EXOSC9
EXT2
EXTL3
EZH2
FA2H
FAM111A
FAM126A
FAM149B1
FAM178A
FAM179B
FAM20C
FAM50A
FANCD2
FAR1
FARS2
FASTKD2
FAT4
FBRSL1
FBXL3
FBXL4
FBXO11
FBXO28
FBXO31
FBXW11
FBXW7
FDFT1
FEM1B
FGD1
FGF12
FGF13
FGFR1
FGFR2
FGFR3
FH
FIBP
FIG4
FITM2
FKRP
FKTN
FLNA
FLVCR1
FLVCR2
FMN2
FMR1
FOLR1
FOXG1
FOXP1
FOXP2
FOXP4
FOXRED1
FRA10AC1
FRAS1
FREM2
FRMPD4
FRRS1L
FRY
FTCD
FTO
FTSJ1
FUCA1
FUK
FUT8
FZR1
GABBR2
GABRA1
GABRA2
GABRA3
GABRA5
GABRB1
GABRB2
GABRB3
GABRD
GABRG2
GAD1
GALC
GALE
GALNT2
GALT
GAMT
GATAD2B
GATM
GCH1
GCSH
GDI1
GEMIN4
GEMIN5
GFAP
GFER
GFM1
GFM2
GJC2
GK
GLB1
GLDC
GLI2
GLI3
GLIS3
GLRA2
GLS
GLTSCR1
GLUL
GLYCTK
GM2A
GMNN
GMPPA
GMPPB
GNAI1
GNAO1
GNAS
GNB1
GNB2
GNB5
GNPAT
GNPTAB
GNPTG
GNS
GOT2
GPAA1
GPC3
GPC4
GPHN
GPR56
GPSM2
GPT2
GRIA1
GRIA2
GRIA3
GRIA4
GRID2
GRIK2
GRIN1
GRIN2A
GRIN2B
GRIN2D
GRM1
GRM7
GSS
GSX2
GTF2H5
GTPBP2
GTPBP3
GUSB
H3F3A
H3F3B
HACE1
HADH
HADHA
HAX1
HCCS
HCFC1
HCN1
HDAC4
HDAC8
HEATR3
HECW2
HEPACAM
HERC1
HERC2
HESX1
HEXA
HEXB
HGSNAT
HIBCH
HID1
HIRA
HIST1H1E
HIST1H4C
HIST1H4E
HIST1H4F
HIST1H4I
HIVEP2
HK1
HLCS
HMGB1
HMGCL
HNMT
HNRNPAB
HNRNPD
HNRNPF
HNRNPH1
HNRNPH2
HNRNPK
HNRNPR
HNRNPU
HNRNPUL1
HNRNPUL2
HOXA1
HPD
HPDL
HPRT1
HRAS
HS2ST1
HSD17B10
HSD17B4
HSPD1
HTRA2
HTT
HUWE1
IARS
IBA57
IDH2
IDS
IDUA
IER3IP1
IFIH1
IFT172
IFT74
IGF1
IGF1R
IKBKG
IL1RAPL1
IMPA1
INPP5E
INPP5K
INTS1
INTS8
IPO8
IQSEC1
IQSEC2
IRF2BPL
IRX5
ISCA2
ISPD
ITPA
ITPR1
ITSN1
IVD
JAM3
JARID2
KANSL1
KARS
KAT5
KAT6A
KAT6B
KAT8
KATNB1
KCNA1
KCNA2
KCNB1
KCNC1
KCNC2
KCNC3
KCND2
KCND3
KCNH1
KCNJ10
KCNJ11
KCNJ6
KCNK4
KCNK9
KCNMA1
KCNN2
KCNN3
KCNQ2
KCNQ3
KCNQ5
KCNT1
KCNT2
KCTD7
KDM1A
KDM3B
KDM4B
KDM5A
KDM5B
KDM5C
KDM6A
KDM6B
KIAA0195
KIAA0196
KIAA0391
KIAA0556
KIAA0586
KIAA0753
KIAA1033
KIAA1109
KIAA1279
KIAA1432
KIAA1715
KIAA2022
KIDINS220
KIF11
KIF14
KIF1A
KIF21B
KIF26A
KIF2A
KIF4A
KIF5C
KIF7
KIRREL3
KLHL15
KLHL7
KMT2A
KMT2B
KMT2C
KMT2D
KMT2E
KPTN
KRAS
L1CAM
L2HGDH
LAGE3
LAMA1
LAMA2
LAMB1
LAMC3
LAMP2
LARGE
LARP7
LAS1L
LGI3
LGI4
LIAS
LIG4
LINS
LIPT2
LMBRD2
LMNB1
LMNB2
LONP1
LRP2
LRPPRC
LSS
LYRM7
LZTFL1
LZTR1
MAB21L1
MAB21L2
MACF1
MADD
MAF
MAGEL2
MAN1B1
MAN2B1
MAN2C1
MANBA
MAOA
MAP1B
MAP2K1
MAP2K2
MAPK1
MAPK8IP3
MAPKAPK5
MAPRE2
MARK2
MASP1
MAST1
MAST3
MAT1A
MBD5
MBOAT7
MBTPS2
MCCC1
MCCC2
MCM3AP
MCOLN1
MCPH1
MDH2
MECP2
MED12
MED12L
MED13
MED13L
MED17
MED23
MED25
MED27
MEF2C
MEGF8
MEIS2
METTL23
METTL5
MFF
MFSD2A
MFSD8
MGAT2
MGP
MICU1
MID1
MINPP1
MKKS
MKS1
MLC1
MLYCD
MMAA
MMAB
MMACHC
MMADHC
MN1
MOCS1
MOCS2
MOGS
MORC2
MPDU1
MPDZ
MPLKIP
MRAS
MRPS22
MRPS34
MSL3
MSMO1
MTFMT
MTHFR
MTO1
MTOR
MTR
MTRR
MUT
MVK
MYCN
MYH10
MYO5A
MYT1L
NAA10
NAA15
NACC1
NAE1
NAGA
NAGLU
NALCN
NANS
NAPB
NARS
NARS2
NBEA
NBN
NCAPG2
NCDN
NCKAP1
NDE1
NDP
NDST1
NDUFA1
NDUFA2
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFS1
NDUFS2
NDUFS4
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NECAP1
NEDD4L
NEMF
NEU1
NEUROD2
NEUROG1
NF1
NFASC
NFIA
NFIB
NFIX
NFU1
NGLY1
NHLRC2
NHS
NIPBL
NKAP
NKX2-1
NKX6-2
NLGN3
NLGN4X
NMNAT1
NONO
NOVA2
NPC1
NPC2
NPHP1
NPRL2
NPRL3
NR2F1
NR4A2
NRAS
NRCAM
NRROS
NRXN1
NSD1
NSDHL
NSRP1
NSUN2
NT5C2
NTNG2
NTRK1
NTRK2
NUBPL
NUDT2
NUP107
NUP188
NUP214
NUS1
OCLN
OCRL
ODC1
OFD1
OGDHL
OGT
OPA3
OPHN1
ORC1
OSGEP
OTC
OTUD5
OTUD6B
OTUD7A
OTX2
OXR1
P4HTM
PACS1
PACS2
PAFAH1B1
PAH
PAK1
PAK3
PAN2
PANK2
PARN
PARP6
PARS2
PAX5
PAX6
PAX8
PBX1
PC
PCCA
PCCB
PCDH12
PCDH19
PCDHGC4
PCGF2
PCLO
PCNT
PCYT2
PDE2A
PDE4D
PDE6D
PDGFRB
PDHA1
PDHX
PDSS1
PDSS2
PDZD8
PEPD
PET100
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PGAP1
PGAP2
PGAP3
PGK1
PGM2L1
PGM3
PHACTR1
PHF21A
PHF6
PHF8
PHGDH
PHIP
PI4KA
PIBF1
PIDD1
PIEZO2
PIGA
PIGB
PIGC
PIGF
PIGG
PIGH
PIGK
PIGL
PIGN
PIGO
PIGP
PIGQ
PIGS
PIGT
PIGU
PIGV
PIGW
PIGY
PIK3CA
PIK3R1
PIK3R2
PISD
PITRM1
PLA2G6
PLAA
PLCB1
PLCH1
PLEKHG2
PLK4
PLP1
PLXNA1
PMM2
PMPCA
PMPCB
PNKP
PNP
PNPLA6
PNPO
POC1A
POGZ
POLA1
POLG
POLR1C
POLR2A
POLR3A
POLR3B
POLR3K
POLRMT
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PORCN
POU3F3
POU4F1
PPFIBP1
PPM1D
PPP1CB
PPP1R12A
PPP1R15B
PPP1R21
PPP2CA
PPP2R1A
PPP2R5D
PPP3CA
PPT1
PQBP1
PRDM13
PRDM15
PREPL
PRICKLE2
PRKACB
PRKAR1B
PRKD1
PRMT7
PRODH
PROSC
PROSER1
PRPS1
PRR12
PRRT2
PRSS12
PRUNE
PSAP
PSMD12
PSPH
PTCH1
PTCHD1
PTDSS1
PTEN
PTF1A
PTPN11
PTPN23
PTRH2
PTRHD1
PTS
PUF60
PUM1
PURA
PUS1
PUS3
PUS7
PYCR1
PYCR2
QARS
QDPR
QRICH1
RAB11A
RAB11B
RAB18
RAB23
RAB27A
RAB39B
RAB3GAP1
RAB3GAP2
RAC1
RAC3
RAD21
RAF1
RAI1
RALA
RALGAPA1
RARB
RARS
RARS2
RBBP8
RBL2
RBM10
RBM28
RBPJ
RECQL4
RELN
RERE
RFT1
RFX2
RFX3
RFX4
RFX7
RHEB
RHOBTB2
RIMS2
RIT1
RLIM
RMND1
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RNF113A
RNF125
RNF13
RNF220
RNPC3
ROBO1
ROGDI
ROR2
RORA
RPGRIP1L
RPIA
RPL10
RPS19
RPS6KA3
RRAS2
RRM2B
RSPRY1
RSRC1
RTN4IP1
RTTN
RUSC2
SALL1
SAMD9
SAMHD1
SASS6
SATB1
SATB2
SBDS
SC5D
SCAF4
SCAMP5
SCAPER
SCN1A
SCN1B
SCN2A
SCN3A
SCN8A
SCO1
SCO2
SCYL1
SCYL2
SDCCAG8
SDHAF1
SEMA6B
SEPSECS
SERAC1
SET
SETBP1
SETD1A
SETD1B
SETD2
SETD5
SFXN4
SGPL1
SGSH
SHANK3
SHH
SHMT2
SHOC2
SHQ1
SHROOM4
SIAH1
SIK1
SIL1
SIN3A
SIN3B
SIX3
SKI
SLC12A2
SLC12A5
SLC12A6
SLC13A5
SLC16A2
SLC17A5
SLC18A2
SLC19A3
SLC1A2
SLC1A4
SLC25A1
SLC25A12
SLC25A15
SLC25A19
SLC25A22
SLC25A42
SLC25A46
SLC2A1
SLC30A9
SLC33A1
SLC35A1
SLC35A2
SLC35A3
SLC35B2
SLC35C1
SLC38A3
SLC39A14
SLC39A8
SLC44A1
SLC45A1
SLC46A1
SLC4A4
SLC6A1
SLC6A17
SLC6A19
SLC6A3
SLC6A8
SLC6A9
SLC9A6
SLC9A7
SMAD4
SMARCA2
SMARCA4
SMARCA5
SMARCB1
SMARCC2
SMARCD1
SMARCE1
SMC1A
SMC3
SMC5
SMG8
SMG9
SMOC1
SMPD1
SMPD4
SMS
SNAP25
SNAP29
SNIP1
SNRPB
SNX14
SNX27
SOBP
SON
SOS1
SOS2
SOX10
SOX11
SOX2
SOX3
SOX4
SOX5
SOX6
SPAST
SPATA5
SPATA5L1
SPECC1L
SPEN
SPG20
SPOP
SPR
SPRED1
SPRED2
SPTAN1
SPTBN1
SPTBN2
SPTBN4
SRCAP
SRD5A3
SRP54
SRRM2
SSR4
ST3GAL3
ST3GAL5
STAG1
STAG2
STAMBP
STIL
STRA6
STRADA
STT3A
STX1B
STXBP1
SUCLA2
SUCLG1
SUFU
SUMF1
SUOX
SUPT16H
SURF1
SUV420H1
SUZ12
SYN1
SYNCRIP
SYNE1
SYNGAP1
SYNJ1
SYP
SYT1
SZT2
TAB2
TAF1
TAF13
TAF2
TAF4
TAF6
TAF8
TANC2
TANGO2
TAOK1
TARS2
TASP1
TAT
TBC1D20
TBC1D23
TBC1D24
TBC1D2B
TBC1D7
TBCD
TBCE
TBCK
TBL1XR1
TBR1
TBX1
TCEAL1
TCF20
TCF4
TCF7L2
TCN2
TCTN2
TDP2
TECPR2
TECR
TELO2
TET3
TFAP2A
TFE3
TGIF1
TH
THG1L
THOC2
THOC6
THRA
THRB
THUMPD1
TIAM1
TIMM50
TIMM8A
TIMMDC1
TINF2
TKT
TLK2
TMCO1
TMEM106B
TMEM107
TMEM165
TMEM216
TMEM218
TMEM222
TMEM231
TMEM237
TMEM240
TMEM5
TMEM63A
TMEM67
TMEM70
TMTC3
TMX2
TNIK
TNPO2
TNR
TNRC6B
TOE1
TOP3A
TOR1AIP1
TP53RK
TP73
TPI1
TPK1
TPP1
TPP2
TPRKB
TRAF7
TRAIP
TRAK1
TRAPPC10
TRAPPC11
TRAPPC12
TRAPPC2L
TRAPPC4
TRAPPC6B
TRAPPC9
TREX1
TRIM32
TRIM8
TRIO
TRIP12
TRIT1
TRMT1
TRMT10A
TRMT5
TRNT1
TRPM3
TRRAP
TSC1
TSC2
TSEN15
TSEN2
TSEN34
TSEN54
TSFM
TSHB
TSPAN7
TTC19
TTC37
TTC5
TTC8
TTI2
TUBA1A
TUBB
TUBB2A
TUBB2B
TUBB3
TUBB4A
TUBG1
TUBGCP2
TUBGCP4
TUBGCP6
TUSC3
TWIST1
TXNDC15
UBA2
UBA5
UBE2A
UBE3A
UBE3B
UBE4A
UBR1
UBR7
UBTF
UFC1
UFM1
UFSP2
UGDH
UGP2
UMPS
UNC80
UPB1
UPF3B
UQCC2
UROC1
USP27X
USP7
USP9X
VAC14
VAMP2
VARS
VARS2
VLDLR
VPS11
VPS13B
VPS13D
VPS16
VPS37A
VPS41
VPS4A
VPS53
VRK1
WAC
WARS2
WASF1
WDFY3
WDR11
WDR26
WDR37
WDR4
WDR45
WDR45B
WDR5
WDR62
WDR73
WDR81
WHSC1
WIPI2
WWOX
XPA
XPO1
XRCC4
XYLT1
YAP1
YARS
YIF1B
YIPF5
YWHAG
YY1
ZBTB11
ZBTB16
ZBTB18
ZBTB20
ZBTB24
ZBTB7A
ZC3H14
ZC4H2
ZDHHC9
ZEB2
ZFHX4
ZFYVE26
ZIC1
ZIC2
ZMIZ1
ZMYM2
ZMYND11
ZNF142
ZNF148
ZNF292
ZNF335
ZNF407
ZNF462
ZNF526
ZNF668
ZNF699
ZNF711
ZNHIT3
ZSWIM6

Dekkingspercentage

CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-

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