- Genetic tests
- Primary immune deficiencies (gene panel)
Primary immune deficiencies (gene panel)
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Full name: |
Primary immune deficiencies (gene panel)
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Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
Post-natal Diagnosis
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Specimen: |
Peripheral (whole) blood on EDTA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
EQA: |
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Turnaround time (maximum): |
6 months
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Document(s): | |
Created: |
01 Aug 2019 - 11:44
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Changed: |
16 Dec 2022 - 13:03
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- ACD
- ACP5
- ACTB
- ADA
- ADA2
- ADAM17
- ADAR
- AICDA
- AIRE
- AK2
- ALPI
- AP1S3
- AP3B1
- AP3D1
- APOL1
- ARHGEF1
- ARPC1B
- ATG16L1
- ATG4A
- ATM
- ATP2A2
- ATP6AP1
- B2M
- BACH2
- BCL10
- BCL11B
- BLK
- BLM
- BLNK
- BLOC1S3
- BLOC1S6
- BTK
- C1QA
- C1QB
- C1QC
- C1R
- C1S
- C2
- C2orf69
- C3
- C4A
- C4BPA
- C5
- C6
- C7
- C8A
- C8B
- C8G
- C9
- CARD11
- CARD14
- CARD9
- CARMIL2
- CASP10
- CASP8
- CBL
- CCBE1
- CCDC28B
- CD19
- CD247
- CD27
- CD3D
- CD3E
- CD3G
- CD4
- CD40
- CD40LG
- CD46
- CD55
- CD59
- CD70
- CD79A
- CD79B
- CD81
- CD8A
- CDC42
- CDCA7
- CEBPE
- CFB
- CFD
- CFH
- CFHR1
- CFHR2
- CFHR3
- CFHR4
- CFHR5
- CFI
- CFP
- CFTR
- CHD7
- CIB1
- CIITA
- CLCN7
- CLEC7A
- CLPB
- COL7A1
- COPA
- CORO1A
- CPT2
- CR2
- CREBBP
- CSF2RA
- CSF2RB
- CSF3R
- CTC1
- CTLA4
- CTNNBL1
- CTPS1
- CTSC
- CXCR4
- CYBA
- CYBB
- CYBC1
- DBR1
- DCLRE1B
- DCLRE1C
- DEF6
- DGKE
- DHFR
- DKC1
- DNAJC21
- DNASE1
- DNASE1L3
- DNASE2
- DNMT3B
- DOCK2
- DOCK8
- DOK3
- DTNBP1
- EFL1
- ELANE
- ELF4
- EPG5
- ERBIN
- ERCC6L2
- EXTL3
- F12
- FAAP24
- FADD
- FAS
- FASLG
- FAT4
- FCGR2B
- FCGR3A
- FCGR3B
- FCHO1
- FCN3
- FERMT1
- FERMT3
- FNIP1
- FOXN1
- FOXP3
- FPR1
- G6PC3
- G6PD
- GATA1
- GATA2
- GFI1
- GIMAP5
- GINS1
- GUCY2C
- HAVCR2
- HAX1
- HELLS
- HMOX1
- HPS1
- HPS4
- HPS6
- HTRA2
- HYOU1
- ICOS
- ICOSLG
- IFIH1
- IFNAR1
- IFNAR2
- IFNG
- IFNGR1
- IFNGR2
- IGHM
- IGKC
- IGLL1
- IKBKB
- IKBKG
- IKZF1
- IL10
- IL10RA
- IL10RB
- IL12B
- IL12RB1
- IL12RB2
- IL15RA
- IL17F
- IL17RA
- IL17RC
- IL18
- IL18BP
- IL1RL1
- IL1RN
- IL21
- IL21R
- IL23R
- IL2RA
- IL2RB
- IL2RG
- IL36RN
- IL6R
- IL6ST
- IL7R
- ILRUN
- INO80
- IRAK1
- IRAK4
- IRF2BP2
- IRF3
- IRF4
- IRF7
- IRF8
- IRF9
- ISG15
- ITCH
- ITGB2
- ITK
- ITPKB
- IVNS1ABP
- JAGN1
- JAK1
- JAK3
- KDM6A
- KMT2A
- KMT2D
- KRAS
- LACC1
- LAMTOR2
- LAT
- LCK
- LCP2
- LIG1
- LIG4
- LIPA
- LPIN2
- LRBA
- LRRC8A
- LSM11
- LYST
- MAGT1
- MALT1
- MAN2B1
- MAP1LC3B2
- MAP3K14
- MAPK8
- MASP1
- MASP2
- MBL2
- MCM10
- MCM4
- MEFV
- MOGS
- MPEG1
- MPO
- MRE11
- MRTFA
- MS4A1
- MSH6
- MSN
- MTHFD1
- MVK
- MYD88
- MYO5B
- MYSM1
- NBAS
- NBN
- NCF1
- NCF2
- NCF4
- NCKAP1L
- NCSTN
- NFAT5
- NFE2L2
- NFKB1
- NFKB2
- NFKBIA
- NHEJ1
- NHP2
- NKX2-5
- NLRC4
- NLRP1
- NLRP12
- NLRP3
- NLRP7
- NOD2
- NOP10
- NOS2
- NPC1
- NRAS
- NSMCE3
- NT5C3A
- OAS1
- ORAI1
- OSTM1
- OTULIN
- PARN
- PAX1
- PCCA
- PCCB
- PEPD
- PGM3
- PIK3CD
- PIK3CG
- PIK3R1
- PLCG2
- PLEKHM1
- PLG
- PMP22
- PMS2
- PNP
- POLA1
- POLD1
- POLD2
- POLE
- POLE2
- POLR3A
- POLR3C
- POLR3F
- PRF1
- PRIM1
- PRKCD
- PRKDC
- PSEN1
- PSENEN
- PSMA3
- PSMB10
- PSMB4
- PSMB8
- PSMB9
- PSMG2
- PSTPIP1
- PSTPIP2
- PTEN
- PTPN11
- PTPN2
- PTPN6
- PTPRC
- RAB27A
- RAC2
- RAG1
- RAG2
- RANBP2
- RASGRP1
- RBCK1
- RC3H1
- RECQL4
- REL
- RELA
- RELB
- RFX5
- RFXANK
- RFXAP
- RHOH
- RIGI
- RIPK1
- RMRP
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNF168
- RNF31
- RORC
- RPSA
- RTEL1
- SAMD9
- SAMD9L
- SAMHD1
- SASH3
- SBDS
- SDHA
- SEC61A1
- SEMA3E
- SERPING1
- SGPL1
- SH2D1A
- SH3BP2
- SH3KBP1
- SKIC2
- SKIC3
- SLC11A1
- SLC29A3
- SLC35C1
- SLC37A4
- SLC39A7
- SLC46A1
- SLC7A7
- SLC9A3
- SMARCAL1
- SMARCD2
- SNX10
- SOCS1
- SOCS4
- SPI1
- SPINK5
- SPPL2A
- SRP54
- SRP72
- STAT1
- STAT2
- STAT3
- STAT4
- STAT5B
- STAT6
- STIM1
- STING1
- STK4
- STN1
- STX11
- STXBP2
- STXBP3
- SYK
- TAFAZZIN
- TAP1
- TAP2
- TAPBP
- TBK1
- TBX1
- TBX21
- TCF3
- TCIRG1
- TCN2
- TERC
- TERT
- TET2
- TFRC
- TGFB1
- TGFBR1
- TGFBR2
- THBD
- TICAM1
- TINF2
- TIRAP
- TLR3
- TLR4
- TLR7
- TMC6
- TMC8
- TNFAIP3
- TNFRSF11A
- TNFRSF13B
- TNFRSF13C
- TNFRSF1A
- TNFRSF4
- TNFRSF9
- TNFSF11
- TNFSF12
- TNFSF13
- TOP2B
- TPP2
- TRAC
- TRAF3
- TRAF3IP2
- TREX1
- TRIM22
- TRNT1
- TTC7A
- TYK2
- UBA1
- UNC119
- UNC13D
- UNC93B1
- UNG
- USB1
- USP18
- VAV1
- VPS13B
- VPS45
- WAS
- WDR1
- WIPF1
- WRAP53
- XBP1
- XIAP
- ZAP70
- ZBTB24
- ZNF341
- ZNFX1
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Primary immune deficiencies - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACD 100.00 1 ACP5 100.00 1 ACTB 100.00 1 ADA 99.97 1 ADA2 100.00 1 ADAM17 99.94 1 ADAR 99.84 1 AICDA 99.94 1 AIRE 99.95 1 AK2 99.39 1 ALPI 100.00 1 AP1S3 100.00 1 AP3B1 99.89 1 AP3D1 100.00 1 APOL1 99.99 1 ARHGEF1 99.97 1 ARPC1B 99.92 1 ATG16L1 99.95 1 ATG4A 99.86 1 ATM 99.83 1 ATP2A2 99.98 1 ATP6AP1 100.00 1 B2M 100.00 1 BACH2 99.99 1 BCL10 99.74 1 BCL11B 100.00 1 BLK 99.98 1 BLM 99.80 1 BLNK 99.90 1 BLOC1S3 100.00 1 BLOC1S6 99.98 1 BTK 99.88 1 C1QA 99.99 1 C1QB 99.58 1 C1QC 99.97 1 C1R 99.99 1 C1S 99.98 1 C2 99.99 1 C2orf69 99.97 1 C3 100.00 1 C4A 21.28 1 C4BPA 99.95 1 C5 99.92 1 C6 99.97 1 C7 99.94 1 C8A 99.95 1 C8B 99.37 1 C8G 99.99 1 C9 99.89 1 CARD11 99.97 1 CARD14 99.99 1 CARD9 100.00 1 CARMIL2 99.99 1 CASP10 99.85 1 CASP8 99.92 1 CBL 99.95 1 CCBE1 99.52 1 CCDC28B 99.99 1 CD19 99.98 1 CD247 99.79 1 CD27 99.95 1 CD3D 100.00 1 CD3E 100.00 1 CD3G 100.00 1 CD4 100.00 1 CD40 100.00 1 CD40LG 99.88 1 CD46 99.86 1 CD55 74.12 1 CD59 100.00 1 CD70 99.99 1 CD79A 99.97 1 CD79B 99.93 1 CD81 99.97 1 CD8A 99.97 1 CDC42 98.05 1 CDCA7 99.88 1 CEBPE 100.00 1 CFB 99.97 1 CFD 99.99 1 CFH 99.12 1 CFHR1 84.44 1 CFHR2 90.26 1 CFHR3 91.62 1 CFHR4 99.86 1 CFHR5 99.68 1 CFI 99.87 1 CFP 99.96 1 CFTR 99.45 1 CHD7 99.99 1 CIB1 99.92 1 CIITA 99.99 1 CLCN7 99.99 1 CLEC7A 99.98 1 CLPB 99.97 1 COL7A1 99.99 1 COPA 99.61 1 CORO1A 91.71 1 CPT2 99.65 1 CR2 99.97 1 CREBBP 99.97 1 CSF2RA 93.86 1 CSF2RB 100.00 1 CSF3R 99.97 1 CTC1 100.00 1 CTLA4 99.99 1 CTNNBL1 100.00 1 CTPS1 98.63 1 CTSC 99.97 1 CXCR4 99.98 1 CYBA 99.96 1 CYBB 99.87 1 CYBC1 100.00 1 DBR1 99.92 1 DCLRE1B 99.91 1 DCLRE1C 99.79 1 RIGI 99.84 1 DEF6 100.00 1 DGKE 99.10 1 DHFR 98.89 1 DKC1 99.59 1 DNAJC21 99.67 1 DNASE1 100.00 1 DNASE1L3 99.90 1 DNASE2 100.00 1 DNMT3B 99.98 1 DOCK2 100.00 1 DOCK8 99.86 1 DOK3 99.95 1 DTNBP1 99.89 1 EFL1 99.83 1 ELANE 100.00 1 ELF4 99.97 1 EPG5 99.95 1 ERBIN 99.69 1 ERCC6L2 99.94 1 EXTL3 99.99 1 F12 99.99 1 FAAP24 99.95 1 FADD 99.97 1 FAS 99.99 1 FASLG 99.84 1 FAT4 99.98 1 FCGR2B 70.97 1 FCGR3A 99.93 1 FCGR3B 95.51 1 FCHO1 99.99 1 FCN3 99.48 1 FERMT1 99.90 1 FERMT3 99.99 1 FNIP1 99.87 1 FOXN1 99.97 1 FOXP3 99.93 1 FPR1 100.00 1 G6PC3 99.98 1 G6PD 99.97 1 GATA1 99.97 1 GATA2 99.99 1 GFI1 99.88 1 GIMAP5 100.00 1 GINS1 99.99 1 GUCY2C 99.90 1 HAVCR2 99.93 1 HAX1 100.00 1 HELLS 99.78 1 HMOX1 99.95 1 HPS1 100.00 1 HPS4 99.98 1 HPS6 100.00 1 HTRA2 99.99 1 HYOU1 99.97 1 ICOS 99.95 1 ICOSLG 5.95 1 IFIH1 99.84 1 IFNAR1 99.75 1 IFNAR2 89.62 1 IFNG 99.50 1 IFNGR1 99.87 1 IFNGR2 99.95 1 IGHM 100.00 1 IGKC 99.99 1 IGLL1 100.00 1 IKBKB 99.93 1 IKBKG 57.34 1 IKZF1 99.92 1 IL10 100.00 1 IL10RA 99.99 1 IL10RB 99.99 1 IL12B 99.98 1 IL12RB1 94.11 1 IL12RB2 97.66 1 IL15RA 99.96 1 IL17F 99.99 1 IL17RA 100.00 1 IL17RC 100.00 1 IL18 99.85 1 IL18BP 99.99 1 IL1RL1 99.76 1 IL1RN 99.64 1 IL21 99.95 1 IL21R 99.70 1 IL23R 97.64 1 IL2RA 99.99 1 IL2RB 100.00 1 IL2RG 99.86 1 IL36RN 100.00 1 IL6R 92.46 1 IL6ST 99.88 1 IL7R 99.99 1 ILRUN 100.00 1 INO80 99.96 1 IRAK1 99.98 1 IRAK4 98.85 1 IRF2BP2 100.00 1 IRF3 99.96 1 IRF4 99.99 1 IRF7 100.00 1 IRF8 99.99 1 IRF9 100.00 1 ISG15 100.00 1 ITCH 95.57 1 ITGB2 100.00 1 ITK 99.91 1 ITPKB 99.99 1 IVNS1ABP 99.24 1 JAGN1 100.00 1 JAK1 99.32 1 JAK3 99.99 1 KDM6A 99.74 1 KMT2A 99.97 1 KMT2D 99.98 1 KRAS 99.13 1 LACC1 99.99 1 LAMTOR2 99.92 1 LAT 99.85 1 LCK 99.56 1 LCP2 99.58 1 LIG1 99.93 1 LIG4 100.00 1 LIPA 99.96 1 LPIN2 100.00 1 LRBA 99.76 1 LRRC8A 100.00 1 LSM11 100.00 1 LYST 99.87 1 MAGT1 99.54 1 MALT1 99.71 1 MAN2B1 99.99 1 MAP1LC3B2 100.00 1 MAP3K14 99.98 1 MAPK8 99.64 1 MASP1 99.99 1 MASP2 99.95 1 MBL2 99.93 1 MCM10 99.99 1 MCM4 99.96 1 MEFV 100.00 1 MOGS 100.00 1 MPEG1 100.00 1 MPO 99.97 1 MRE11 99.93 1 MRTFA 92.99 1 MS4A1 99.60 1 MSH6 99.97 1 MSN 99.98 1 MTHFD1 100.00 1 MVK 99.97 1 MYD88 99.99 1 MYO5B 100.00 1 MYSM1 94.16 1 NBAS 99.86 1 NBN 99.93 1 NCF1 57.22 1 NCF2 99.85 1 NCF4 100.00 1 NCKAP1L 99.77 1 NCSTN 99.82 1 NFAT5 99.93 1 NFE2L2 99.97 1 NFKB1 99.80 1 NFKB2 99.98 1 NFKBIA 99.99 1 NHEJ1 99.91 1 NHP2 99.96 1 NKX2-5 99.75 1 NLRC4 99.95 1 NLRP1 95.26 1 NLRP12 99.99 1 NLRP3 100.00 1 NLRP7 99.99 1 NOD2 99.98 1 NOP10 99.99 1 NOS2 96.11 1 NPC1 99.99 1 NRAS 99.66 1 NSMCE3 100.00 1 OAS1 99.96 1 ORAI1 99.63 1 OSTM1 99.56 1 OTULIN 99.95 1 PARN 99.75 1 PAX1 100.00 1 PCCA 99.90 1 PCCB 99.97 1 PEPD 99.98 1 PGM3 99.94 1 PIK3CD 99.99 1 PIK3CG 99.72 1 PIK3R1 99.86 1 PLCG2 99.99 1 PLEKHM1 99.77 1 PLG 99.89 1 PMS2 70.47 1 PNP 100.00 1 POLA1 99.57 1 POLD1 99.96 1 POLD2 99.95 1 POLE 99.99 1 POLE2 99.87 1 POLR3A 99.97 1 POLR3C 99.89 1 POLR3F 99.97 1 NT5C3A 99.95 1 PRF1 100.00 1 PRIM1 99.07 1 PRKCD 99.96 1 PRKDC 99.93 1 PSEN1 100.00 1 PSENEN 100.00 1 PSMA3 99.96 1 PSMB10 99.98 1 PSMB4 99.83 1 PSMB8 99.96 1 PSMB9 99.68 1 PSMG2 99.98 1 PSTPIP1 99.91 1 PSTPIP2 99.98 1 PTEN 99.89 1 PTPN11 99.98 1 PTPN2 99.98 1 PTPN6 100.00 1 PTPRC 93.90 1 RAB27A 99.94 1 RAC2 99.99 1 RAG1 100.00 1 RAG2 100.00 1 RANBP2 99.37 1 RASGRP1 100.00 1 RBCK1 100.00 1 RC3H1 99.22 1 RECQL4 100.00 1 REL 96.99 1 RELA 99.99 1 RELB 99.97 1 RFX5 99.88 1 RFXANK 100.00 1 RFXAP 99.98 1 RHOH 99.99 1 RIPK1 99.93 1 RMRP 100.00 1 RNASEH2A 99.95 1 RNASEH2B 99.94 1 RNASEH2C 99.99 1 RNF168 99.97 1 RNF31 100.00 1 RORC 99.42 1 RPSA 0.00 1 RTEL1 100.00 1 SAMD9 99.93 1 SAMD9L 99.95 1 SAMHD1 99.98 1 SASH3 99.99 1 SBDS 99.93 1 SDHA 99.98 1 SEC61A1 99.99 1 SEMA3E 99.13 1 SERPING1 100.00 1 SGPL1 99.95 1 SH2D1A 98.98 1 SH3BP2 100.00 1 SH3KBP1 99.95 1 SKIC2 99.98 1 SLC11A1 99.99 1 SLC29A3 99.98 1 SLC35C1 100.00 1 SLC37A4 99.90 1 SLC39A7 100.00 1 SLC46A1 100.00 1 SLC7A7 99.99 1 SLC9A3 100.00 1 SMARCAL1 99.97 1 SMARCD2 99.99 1 SNX10 99.96 1 SOCS1 99.98 1 SOCS4 99.92 1 PMP22 99.99 1 SPI1 99.81 1 SPINK5 99.91 1 SPPL2A 99.88 1 SRP54 99.83 1 SRP72 99.91 1 STAT1 99.83 1 STAT2 99.89 1 STAT3 99.97 1 STAT4 99.77 1 STAT5B 99.50 1 STAT6 99.87 1 STIM1 99.99 1 STING1 99.87 1 STK4 99.91 1 STN1 99.88 1 STX11 100.00 1 STXBP2 100.00 1 STXBP3 85.74 1 SYK 99.96 1 TAFAZZIN 99.98 1 TAP1 99.97 1 TAP2 99.94 1 TAPBP 99.98 1 TBK1 99.07 1 TBX1 99.95 1 TBX21 99.99 1 TCF3 100.00 1 TCIRG1 99.99 1 TCN2 100.00 1 TERC 98.59 1 TERT 100.00 1 TET2 99.99 1 TFRC 99.87 1 TGFB1 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 THBD 100.00 1 TICAM1 99.99 1 TINF2 100.00 1 TIRAP 100.00 1 TLR3 99.99 1 TLR4 99.99 1 TLR7 99.98 1 TMC6 100.00 1 TMC8 99.92 1 TNFAIP3 99.94 1 TNFRSF11A 100.00 1 TNFRSF13B 99.43 1 TNFRSF13C 99.99 1 TNFRSF1A 100.00 1 TNFRSF4 100.00 1 TNFRSF9 99.99 1 TNFSF11 99.89 1 TNFSF12 100.00 1 TNFSF13 100.00 1 TOP2B 99.72 1 TPP2 99.89 1 TRAC 100.00 1 TRAF3 99.97 1 TRAF3IP2 100.00 1 TREX1 100.00 1 TRIM22 100.00 1 TRNT1 99.97 1 SKIC3 99.82 1 TTC7A 99.77 1 TYK2 99.99 1 UBA1 99.93 1 UNC119 100.00 1 UNC13D 100.00 1 UNC93B1 99.75 1 UNG 100.00 1 USB1 89.62 1 USP18 93.05 1 VAV1 99.99 1 VPS13B 99.90 1 VPS45 93.94 1 WAS 99.90 1 WDR1 99.99 1 WIPF1 99.87 1 WRAP53 100.00 1 XBP1 99.99 1 XIAP 99.36 1 ZAP70 99.95 1 ZBTB24 99.99 1 ZNF341 100.00 1 ZNFX1 99.99 1