Terug
Bloed- en vaataandoeningen
Primaire hemostase defecten TRO02v21.1
96 genen
Genpanel dekking 15X: 99.3 %
96 genen
Genpanel dekking 15X: 99.3 %
TRO02v21.1
06-07-2023
TBXA2R
F2RL3
BLOC1S3
GP6
SRC
GNAS
TUBB1
RUNX1
GP1BB
GNAZ
HPS4
MYH9
WAS
GATA1
FLNA
HPS6
ADRA2A
STIM1
HPS5
FERMT3
PLCB3
RASGRP2
FLI1
VWF
ETV6
ANO6
ACVRL1
ACTN1
VIPAS39
PLCB2
BLOC1S6
FBN1
MYO5A
RAB27A
VPS33B
PLCG2
P2RX1
GP1BA
SLFN14
ITGA2B
ITGB3
COL1A1
GNA13
TBXA2R
F2RL3
BLOC1S3
GP6
GNAS
TUBB1
RUNX1
GP1BB
GNAZ
HPS4
MYH9
WAS
GATA1
FLNA
CDC42
MPL
RBM8A
GBA
PLA2G4A
RGS2
LYST
ABCG5
ABCG8
ADRA2B
COL3A1
COL5A2
MLPH
NBEAL2
GNAI2
GATA2
GP9
HPS3
P2RY12
P2RY1
MECOM
THPO
FGB
FGA
FGG
FYB
ITGA2
F2R
AP3B1
DTNBP1
GNA12
CYCS
HOXA11
GNAI1
CD36
TBXAS1
GNE
PRKACG
GNAQ
PTGS1
ENG
GFI1B
COL5A1
ANKRD26
MASTL
ITGB1
PLAU
HPS1
HPS6
ADRA2A
STIM1
HPS5
FERMT3
PLCB3
RASGRP2
FLI1
VWF
ETV6
ANO6
ACVRL1
ACTN1
VIPAS39
PLCB2
BLOC1S6
FBN1
MYO5A
RAB27A
VPS33B
PLCG2
P2RX1
GP1BA
SLFN14
ITGA2B
ITGB3
COL1A1
GNA13
TBXA2R
F2RL3
BLOC1S3
GP6
GNAS
TUBB1
RUNX1
GP1BB
GNAZ
HPS4
MYH9
WAS
GATA1
FLNA
CDC42
EPHB2
GALE
MPL
RBM8A
GBA
PLA2G4A
RGS2
LYST
ABCG5
ABCG8
ADRA2B
COL3A1
COL5A2
MLPH
NBEAL2
GNAI2
GATA2
GP9
HPS3
P2RY12
P2RY1
MECOM
THPO
FGB
FGA
FGG
FYB
ITGA2
F2R
AP3B1
DIAPH1
DTNBP1
GNA12
CYCS
HOXA11
GNAI1
CD36
TBXAS1
GNE
PRKACG
GNAQ
PTGS1
ENG
GFI1B
COL5A1
ANKRD26
MASTL
ITGB1
PLAU
HPS1
CDC42
MPL
RBM8A
GBA
PLA2G4A
RGS2
LYST
ABCG5
ABCG8
ADRA2B
COL3A1
COL5A2
MLPH
NBEAL2
GNAI2
GP9
HPS3
P2RY12
P2RY1
MECOM
THPO
FGB
FGA
FGG
FYB
ITGA2
F2R
AP3B1
DTNBP1
GNA12
CYCS
HOXA11
GNAI1
CD36
TBXAS1
GNE
PRKACG
GNAQ
PTGS1
ENG
GFI1B
COL5A1
ANKRD26
MASTL
ITGB1
PLAU
HPS1
HPS6
ADRA2A
IKZF5
STIM1
HPS5
PTPRJ
FERMT3
PLCB3
RASGRP2
FLI1
VWF
ETV6
ANO6
ACVRL1
ACTN1
VIPAS39
PLCB2
BLOC1S6
FBN1
MYO5A
RAB27A
VPS33B
PLCG2
P2RX1
GP1BA
SLFN14
ITGA2B
ITGB3
COL1A1
GNA13
Dekkingspercentage
CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-
Primaire hemostase defecten TRO02v16.1
89 genen
Genpanel dekking 15X: 99.4 %
89 genen
Genpanel dekking 15X: 99.4 %
TRO02v16.1
06-07-2023
TBXA2R
F2RL3
BLOC1S3
GP6
SRC
GNAS
TUBB1
RUNX1
GP1BB
GNAZ
HPS4
MYH9
WAS
GATA1
FLNA
HPS6
ADRA2A
STIM1
HPS5
FERMT3
PLCB3
RASGRP2
FLI1
VWF
ETV6
ANO6
ACVRL1
ACTN1
VIPAS39
PLCB2
BLOC1S6
FBN1
MYO5A
RAB27A
VPS33B
PLCG2
P2RX1
GP1BA
SLFN14
ITGA2B
ITGB3
COL1A1
GNA13
TBXA2R
F2RL3
BLOC1S3
GP6
GNAS
TUBB1
RUNX1
GP1BB
GNAZ
HPS4
MYH9
WAS
GATA1
FLNA
CDC42
MPL
RBM8A
GBA
PLA2G4A
RGS2
LYST
ABCG5
ABCG8
ADRA2B
COL3A1
COL5A2
MLPH
NBEAL2
GNAI2
GATA2
GP9
HPS3
P2RY12
P2RY1
MECOM
THPO
FGB
FGA
FGG
FYB
ITGA2
F2R
AP3B1
DTNBP1
GNA12
CYCS
HOXA11
GNAI1
CD36
TBXAS1
GNE
PRKACG
GNAQ
PTGS1
ENG
GFI1B
COL5A1
ANKRD26
MASTL
ITGB1
PLAU
HPS1
HPS6
ADRA2A
STIM1
HPS5
FERMT3
PLCB3
RASGRP2
FLI1
VWF
ETV6
ANO6
ACVRL1
ACTN1
VIPAS39
PLCB2
BLOC1S6
FBN1
MYO5A
RAB27A
VPS33B
PLCG2
P2RX1
GP1BA
SLFN14
ITGA2B
ITGB3
COL1A1
GNA13
TBXA2R
F2RL3
BLOC1S3
GP6
GNAS
TUBB1
RUNX1
GP1BB
GNAZ
HPS4
MYH9
WAS
GATA1
FLNA
CDC42
EPHB2
GALE
MPL
RBM8A
GBA
PLA2G4A
RGS2
LYST
ABCG5
ABCG8
ADRA2B
COL3A1
COL5A2
MLPH
NBEAL2
GNAI2
GATA2
GP9
HPS3
P2RY12
P2RY1
MECOM
THPO
FGB
FGA
FGG
FYB
ITGA2
F2R
AP3B1
DIAPH1
DTNBP1
GNA12
CYCS
HOXA11
GNAI1
CD36
TBXAS1
GNE
PRKACG
GNAQ
PTGS1
ENG
GFI1B
COL5A1
ANKRD26
MASTL
ITGB1
PLAU
HPS1
CDC42
MPL
RBM8A
GBA
PLA2G4A
RGS2
LYST
ABCG5
ABCG8
ADRA2B
COL3A1
COL5A2
MLPH
NBEAL2
GNAI2
GP9
HPS3
P2RY12
P2RY1
MECOM
THPO
FGB
FGA
FGG
FYB
ITGA2
F2R
AP3B1
DTNBP1
GNA12
CYCS
HOXA11
GNAI1
CD36
TBXAS1
GNE
PRKACG
GNAQ
PTGS1
ENG
GFI1B
COL5A1
ANKRD26
MASTL
ITGB1
PLAU
HPS1
HPS6
ADRA2A
IKZF5
STIM1
HPS5
PTPRJ
FERMT3
PLCB3
RASGRP2
FLI1
VWF
ETV6
ANO6
ACVRL1
ACTN1
VIPAS39
PLCB2
BLOC1S6
FBN1
MYO5A
RAB27A
VPS33B
PLCG2
P2RX1
GP1BA
SLFN14
ITGA2B
ITGB3
COL1A1
GNA13
Dekkingspercentage
CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-
Primaire hemostase defecten TRO02v17.1
90 genen
Genpanel dekking 15X: 99.4 %
90 genen
Genpanel dekking 15X: 99.4 %
TRO02v17.1
06-07-2023
TBXA2R
F2RL3
BLOC1S3
GP6
SRC
GNAS
TUBB1
RUNX1
GP1BB
GNAZ
HPS4
MYH9
WAS
GATA1
FLNA
HPS6
ADRA2A
STIM1
HPS5
FERMT3
PLCB3
RASGRP2
FLI1
VWF
ETV6
ANO6
ACVRL1
ACTN1
VIPAS39
PLCB2
BLOC1S6
FBN1
MYO5A
RAB27A
VPS33B
PLCG2
P2RX1
GP1BA
SLFN14
ITGA2B
ITGB3
COL1A1
GNA13
TBXA2R
F2RL3
BLOC1S3
GP6
GNAS
TUBB1
RUNX1
GP1BB
GNAZ
HPS4
MYH9
WAS
GATA1
FLNA
CDC42
MPL
RBM8A
GBA
PLA2G4A
RGS2
LYST
ABCG5
ABCG8
ADRA2B
COL3A1
COL5A2
MLPH
NBEAL2
GNAI2
GATA2
GP9
HPS3
P2RY12
P2RY1
MECOM
THPO
FGB
FGA
FGG
FYB
ITGA2
F2R
AP3B1
DTNBP1
GNA12
CYCS
HOXA11
GNAI1
CD36
TBXAS1
GNE
PRKACG
GNAQ
PTGS1
ENG
GFI1B
COL5A1
ANKRD26
MASTL
ITGB1
PLAU
HPS1
HPS6
ADRA2A
STIM1
HPS5
FERMT3
PLCB3
RASGRP2
FLI1
VWF
ETV6
ANO6
ACVRL1
ACTN1
VIPAS39
PLCB2
BLOC1S6
FBN1
MYO5A
RAB27A
VPS33B
PLCG2
P2RX1
GP1BA
SLFN14
ITGA2B
ITGB3
COL1A1
GNA13
TBXA2R
F2RL3
BLOC1S3
GP6
GNAS
TUBB1
RUNX1
GP1BB
GNAZ
HPS4
MYH9
WAS
GATA1
FLNA
CDC42
EPHB2
GALE
MPL
RBM8A
GBA
PLA2G4A
RGS2
LYST
ABCG5
ABCG8
ADRA2B
COL3A1
COL5A2
MLPH
NBEAL2
GNAI2
GATA2
GP9
HPS3
P2RY12
P2RY1
MECOM
THPO
FGB
FGA
FGG
FYB
ITGA2
F2R
AP3B1
DIAPH1
DTNBP1
GNA12
CYCS
HOXA11
GNAI1
CD36
TBXAS1
GNE
PRKACG
GNAQ
PTGS1
ENG
GFI1B
COL5A1
ANKRD26
MASTL
ITGB1
PLAU
HPS1
CDC42
MPL
RBM8A
GBA
PLA2G4A
RGS2
LYST
ABCG5
ABCG8
ADRA2B
COL3A1
COL5A2
MLPH
NBEAL2
GNAI2
GP9
HPS3
P2RY12
P2RY1
MECOM
THPO
FGB
FGA
FGG
FYB
ITGA2
F2R
AP3B1
DTNBP1
GNA12
CYCS
HOXA11
GNAI1
CD36
TBXAS1
GNE
PRKACG
GNAQ
PTGS1
ENG
GFI1B
COL5A1
ANKRD26
MASTL
ITGB1
PLAU
HPS1
HPS6
ADRA2A
IKZF5
STIM1
HPS5
PTPRJ
FERMT3
PLCB3
RASGRP2
FLI1
VWF
ETV6
ANO6
ACVRL1
ACTN1
VIPAS39
PLCB2
BLOC1S6
FBN1
MYO5A
RAB27A
VPS33B
PLCG2
P2RX1
GP1BA
SLFN14
ITGA2B
ITGB3
COL1A1
GNA13
Dekkingspercentage
CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-