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
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Congenitale secundaire erythrocytose EMS01v21.1

16 genen

Genpanel dekking 15X: 99.8 %
EMS01v21.1
26-08-2024
Archief
BPGM
CYB5R3
EGLN1
EGLN2
EPAS1
EPO
EPOR
HBA1
HBA2
HBB
HIF3A
OS9
PIEZO1
PKLR
SH2B3
VHL

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Diamond-Blackfan anemie DBA01v22.1

35 genen

Genpanel dekking 15X: 95.9 %
DBA01v22.1
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

G6PD deficientie G6PDv23.1

1 genen

Genpanel dekking 15X: 100 %
G6PDv23.1
26-08-2024
G6PD

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Hemofilie A, (HEMA) HEMAv23.1

1 genen

Genpanel dekking 15X: 100 %
HEMAv23.1
26-08-2024
F8

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Hereditaire hemolytische anemie EMS00v17.1

47 genen

Genpanel dekking 15X: 100 %
EMS00v17.1
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Primaire hemostase defecten TRO02v22.1

100 genen

Genpanel dekking 15X: 99.9 %
TRO02v22.1
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Rendu Osler Weber syndroom ROW01v22.1

4 genen

Genpanel dekking 15X: 100 %
ROW01v22.1
26-08-2024
ACVRL1
ENG
GDF2
SMAD4

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Von Willebrand Factor VWFv23.1

1 genen

Genpanel dekking 15X: 99.9 %
VWFv23.1
26-08-2024
VWF

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Ziekte van Von Willebrand, VWF TRO03v18.1

2 genen

Genpanel dekking 15X: 99.9 %
TRO03v18.1
26-08-2024
VWF

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Cardiogenetica

Aangeboren hartafwijkingen CAR05v19.1

56 genen

Genpanel dekking 15X: 99.6 %
CAR05v19.1
26-08-2024
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

CreV4 (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
26-08-2024
FOXF1

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Brugada syndroom SCN5Av23.1

1 genen

Genpanel dekking 15X: 100 %
SCN5Av23.1
26-08-2024
SCN5A

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Cardio-myopathie CAR01v21.1

42 genen

Genpanel dekking 15X: 100 %
CAR01v21.1
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Cardiovasculaire ziekten CAR00v16.1

212 genen

Genpanel dekking 15X: 99.5 %
CAR00v16.1
26-08-2024
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

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Erfelijke hartritme-stoornissen CAR03v23.1

49 genen

Genpanel dekking 15X: 100 %
CAR03v23.1
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

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

43 genen

Genpanel dekking 15X: 100 %
CAR09v23.1
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Pulmonaire Arteriele Hypertensie (PAH) CAR08v22.1

15 genen

Genpanel dekking 15X: 100 %
CAR08v22.1
26-08-2024
ABCC8
ACVRL1
ATP13A3
BMPR2
CAV1
EIF2AK4
ENG
GDF2
GGCX
KCNK3
KDR
SMAD9
SOX17
TBX4
TET2

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Syndromaal microphthalmia 2 / Oculofaciocardiodentaal syndroom BCORv23.1

1 genen

Genpanel dekking 15X: 100 %
BCORv23.1
26-08-2024
BCOR

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Vasculaire aandoeningen CAR04v23.1

38 genen

Genpanel dekking 15X: 100 %
CAR04v23.1
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Ziekte van Fabry FABRYv23.1

1 genen

Genpanel dekking 15X: 100 %
FABRYv23.1
26-08-2024
GLA

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Dysmorfologie

Amelogenesis imperfecta DON02v19.1

28 genen

Genpanel dekking 15X: 100 %
DON02v19.1
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Cantú syndroom ABCC9v23.1

1 genen

Genpanel dekking 15X: 100 %
ABCC9v23.1
26-08-2024
ABCC9

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Cleidocraniale dysplasie (CCD) RUNX2v23.1

1 genen

Genpanel dekking 15X: 100 %
RUNX2v23.1
26-08-2024
RUNX2

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Currarino, triade van (TRIAD) TRIADv23.1

1 genen

Genpanel dekking 15X: 100 %
TRIADv23.1
26-08-2024
MNX1

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Fraser syndroom FRA00v16.1

5 genen

Genpanel dekking 15X: 100 %
FRA00v16.1
26-08-2024
FRAS1
FREM1
FREM2
GRIP1

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Hemifaciale microsomie OWS01v19.1

44 genen

Genpanel dekking 15X: 100 %
OWS01v19.1
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Hypodontie / Oligodontie DON01v19.1

18 genen

Genpanel dekking 15X: 100 %
DON01v19.1
26-08-2024
Archief
AXIN2
BCOR
EDA
EDAR
EDARADD
FGFR1
FLNA
GJA1
GREM2
IRF6
LRP6
LTBP3
MSX1
PAX9
TP63
WNT10A
WNT10B

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Pierre Robin sequentie OWS03v19.1

21 genen

Genpanel dekking 15X: 99.8 %
OWS03v19.1
26-08-2024
Archief
AMER1
COL11A1
COL11A2
COL2A1
DHODH
EDN1
EFTUD2
GNAI3
PGM1
PLCB4
POLR1A
POLR1C
POLR1D
RBM10
SATB2
SF3B4
SLC26A2
SOX9
TBX1
TCOF1

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

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

195 genen

Genpanel dekking 15X: 99.8 %
OWS02v20.2
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Epilepsie

Benigne neo-natale/infantiele convulsies EPI01v21.1

8 genen

Genpanel dekking 15X: 100 %
EPI01v21.1
26-08-2024
Archief
ATP1A1
KCNQ2
KCNQ3
PRRT2
SCN2A
SCN8A
TBC1D24

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Dravet syndroom SCN1Av23.1

1 genen

Genpanel dekking 15X: 100 %
SCN1Av23.1
26-08-2024
SCN1A

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

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

30 genen

Genpanel dekking 15X: 99.3 %
EPI11v21.1
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Epilepsie met paroxysmale aandoeningen (VERVALLEN) EPI08v18.1

12 genen

Genpanel dekking 15X: 99.9 %
EPI08v18.1
26-08-2024
ATP1A2
ATP1A3
CACNA1A
CTNND2
KCNA2
KCNMA1
PRRT2
SCN1A
SCN8A
SLC1A3
SLC2A1

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Epilepsie volledig genpanel EPI00v21.1

302 genen

Genpanel dekking 15X: 99.9 %
EPI00v21.1
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Focale epilepsie EPI04v21.1

23 genen

Genpanel dekking 15X: 99.9 %
EPI04v21.1
26-08-2024
Archief
CHRNA2
CHRNA4
CHRNB2
CNKSR2
DCX
DEPDC5
FLNA
GRIN2A
KCNT1
LGI1
MICAL1
MTOR
NPRL2
NPRL3
POLG
PRIMA1
RELN
SLC12A5
SYN1
TSC1
TSC2
ZDHHC9

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

ICE/JME/CAE (VERVALLEN) EPI07v18.1

8 genen

Genpanel dekking 15X: 100 %
EPI07v18.1
26-08-2024
CACNB4
CHD2
GABRA1
GABRB3
SCN8A
SLC2A1
SLC6A1

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Koortsconvulsies/ GEFS+ (VERVALLEN) EPI03v18.1

18 genen

Genpanel dekking 15X: 99.8 %
EPI03v18.1
26-08-2024
ATP1A2
CACNA1A
CHD2
CLCN4
GABRA1
GABRB3
GABRG2
HCN1
KCNA2
PCDH19
POLG
SCN1A
SCN1B
SCN2A
SCN8A
STX1B
TBC1D24

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Ontstekings-gemediëerde epilepsie (VERVALLEN) EPI10v17.1

4 genen

Genpanel dekking 15X: 99.7 %
EPI10v17.1
26-08-2024
CPT2
RANBP2
SCN1A

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Progressieve myoclone epilepsie (VERVALLEN) EPI05v18.1

15 genen

Genpanel dekking 15X: 99.5 %
EPI05v18.1
26-08-2024
ASAH1
CERS1
CSNK2B
EPM2A
GOSR2
IRF2BPL
KCNA2
KCNC1
KCTD7
NHLRC1
POLG
PRICKLE1
PRICKLE2
SCARB2

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Stofwisselings-ziekten met epilepsie (VERVALLEN) EPI06v18.1

39 genen

Genpanel dekking 15X: 99.9 %
EPI06v18.1
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

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

118 genen

Genpanel dekking 15X: 99.8 %
EPI09v18.1
26-08-2024
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

CreV4 (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
26-08-2024
CSTB

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Erfelijke kanker

Borst- en eierstokkanker ONC02v22.1

10 genen

Genpanel dekking 15X: 100 %
ONC02v22.1
26-08-2024
ATM
BARD1
BRCA1
BRCA2
BRIP1
CHEK2
PALB2
PTEN
RAD51C
RAD51D

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Eierstokkanker ONC01v22.1

6 genen

Genpanel dekking 15X: 100 %
ONC01v22.1
26-08-2024
Archief
BRCA1
BRCA2
BRIP1
PALB2
RAD51C
RAD51D

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Erfelijke kanker ONC00v21.1

260 genen

Genpanel dekking 15X: 99.8 %
ONC00v21.1
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Feochromocytoom ONC04v18.1

12 genen

Genpanel dekking 15X: 100 %
ONC04v18.1
26-08-2024
FH
MAX
MDH2
RET
SDHA
SDHAF2
SDHB
SDHC
SDHD
TMEM127
VHL

Dekkingspercentage

CreV4 (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
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Li-Fraumeni syndroom (interne aanvragers) TP53v23.1

1 genen

Genpanel dekking 15X: 100 %
TP53v23.1
26-08-2024
TP53

Dekkingspercentage

CreV4 (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
26-08-2024
CDH1

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Lynch syndroom (HNPCC1) MSH2v23.1

1 genen

Genpanel dekking 15X: 100 %
MSH2v23.1
26-08-2024
MSH2

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Lynch syndroom (HNPCC2) MLH1v23.1

1 genen

Genpanel dekking 15X: 100 %
MLH1v23.1
26-08-2024
MLH1

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Lynch syndroom (HNPCC5) MSH6v23.1

1 genen

Genpanel dekking 15X: 100 %
MSH6v23.1
26-08-2024
MSH6

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

MEN1 ONC06v23.1

11 genen

Genpanel dekking 15X: 100 %
ONC06v23.1
26-08-2024
Archief
AIP
AP2S1
CASR
CDC73
CDKN1A
CDKN1B
CDKN2B
CDKN2C
GNA11
MEN1
RET

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Multipele Endocriene Neoplasie type 1 (MEN1) MEN1v23.1

1 genen

Genpanel dekking 15X: 100 %
MEN1v23.1
26-08-2024
MEN1

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

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

1 genen

Genpanel dekking 15X: 100 %
MEN2Av23.1
26-08-2024
RET

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Nierkanker ONC07v18.1

8 genen

Genpanel dekking 15X: 100 %
ONC07v18.1
26-08-2024
BAP1
FH
FLCN
MET
PTEN
SDHB
VHL

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Non-polyposis/ darmkanker ONC09v20.1

8 genen

Genpanel dekking 15X: 100 %
ONC09v20.1
26-08-2024
EPCAM
MLH1
MSH2
MSH6
PMS2
POLD1
POLE

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Pancreaskanker ONC13v22.1

6 genen

Genpanel dekking 15X: 100 %
ONC13v22.1
26-08-2024
ATM
BRCA1
BRCA2
CDKN2A
PALB2
STK11

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Paraganglioom ONC05v18.1

7 genen

Genpanel dekking 15X: 100 %
ONC05v18.1
26-08-2024
MAX
SDHA
SDHAF2
SDHB
SDHC
SDHD

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Polyposis/ darmkanker ONC08v20.1

21 genen

Genpanel dekking 15X: 100 %
ONC08v20.1
26-08-2024
APC
BMPR1A
EPCAM
GREM1
MLH1
MLH3
MSH2
MSH3
MSH6
MUTYH
NTHL1
PMS2
POLD1
POLE
PTEN
RNF43
RPS20
SCG5
SMAD4
STK11

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Prostaatkanker ONC11v21.1

5 genen

Genpanel dekking 15X: 100 %
ONC11v21.1
26-08-2024
ATM
BRCA1
BRCA2
CHEK2
PALB2

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

PTEN Hamartoma tumor syndroom (PHTS) PTENv23.1

1 genen

Genpanel dekking 15X: 100 %
PTENv23.1
26-08-2024
PTEN

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Risicofactor voor o.a. borstkanker CHEK2v23.1

1 genen

Genpanel dekking 15X: 100 %
CHEK2v23.1
26-08-2024
CHEK2

Dekkingspercentage

CreV4 (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
26-08-2024
ATM

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Von Hippel-Lindau, ziekte van VHLv23.1

1 genen

Genpanel dekking 15X: 100 %
VHLv23.1
26-08-2024
VHL

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Wilms tumor predispositie ONC03v23.1

29 genen

Genpanel dekking 15X: 99.9 %
ONC03v23.1
26-08-2024
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

CreV4 (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
26-08-2024
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

CreV4 (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
26-08-2024
ABCB11
ABCB4
ATP8B1
KIF12
LSR
MYO5B
NR1H4
TJP2
USP53
ZFYVE19

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Metabole ziekten

Biotinidase deficiëntie BTDv23.1

1 genen

Genpanel dekking 15X: 100 %
BTDv23.1
26-08-2024
BTD

Dekkingspercentage

CreV4 (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
26-08-2024
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

CreV4 (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
26-08-2024
PMM2

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Congenital disorder of glycosylation type 1P ALG11v23.1

1 genen

Genpanel dekking 15X: 100 %
ALG11v23.1
26-08-2024
ALG11

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Congenital disorder of glycosylation type 3 COG6v23.1

1 genen

Genpanel dekking 15X: 100 %
COG6v23.1
26-08-2024
COG6

Dekkingspercentage

CreV4 (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
26-08-2024
SLC16A1

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Fenylketonurie type 1 (PKU) PKUv23.1

1 genen

Genpanel dekking 15X: 100 %
PKUv23.1
26-08-2024
PAH

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Fenylketonurie type 3 (PTPS) PTPSv23.1

1 genen

Genpanel dekking 15X: 100 %
PTPSv23.1
26-08-2024
PTS

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Glycerolkinase deficiëntie GKDv23.1

1 genen

Genpanel dekking 15X: 100 %
GKDv23.1
26-08-2024
GK

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Glycine encephalopathie/non-ketotische hyperglycinemie MET01v22.1

3 genen

Genpanel dekking 15X: 99.1 %
MET01v22.1
26-08-2024
Archief
AMT
GCSH
GLDC

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Glycogeen-stapelingsziekten MET06v16.2

24 genen

Genpanel dekking 15X: 100 %
MET06v16.2
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Hartnup disorder S_A19v23.1

1 genen

Genpanel dekking 15X: 100 %
S_A19v23.1
26-08-2024
SLC6A19

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Hemochromatose, (HFE) HHv23.1

1 genen

Genpanel dekking 15X: 100 %
HHv23.1
26-08-2024
HFE

Dekkingspercentage

CreV4 (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
26-08-2024
ACADM

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Metachromatische Leukodystrofie (MLD) MLDv23.1

1 genen

Genpanel dekking 15X: 100 %
MLDv23.1
26-08-2024
ARSA

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Methylmalon acidurie (MMA) MET11v20.1

30 genen

Genpanel dekking 15X: 100 %
MET11v20.1
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Mitochondriële ademhalings-keten defecten MET07v16.1

33 genen

Genpanel dekking 15X: 99.9 %
MET07v16.1
26-08-2024
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

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-

Download Panel OMIM link

Niemann-Pick disease MET04v16.1

4 genen

Genpanel dekking 15X: 100 %
MET04v16.1
26-08-2024
NPC1
NPC2
SMPD1

Dekkingspercentage

CreV4 (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
26-08-2024
GAA

Dekkingspercentage

CreV4 (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
26-08-2024
ABCB11
ABCB4
ATP8B1
KIF12
LSR
NR1H4
TJP2
USP53
ZFYVE19

Dekkingspercentage

CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-