- Genetic tests
- Skeletal dysplasia (gene panel)
Skeletal dysplasia (gene panel)
This test requires filling out a specific Application Form available in the "document" field
Full name: |
Skeletal dysplasia (gene panel)
|
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,
DNA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
Accreditation (ISO 15189): |
2021-09-11 / 2026-09-10
|
Turnaround time (maximum): |
6 months
|
Document(s): | |
Created: |
15 Dec 2020 - 17:00
|
Changed: |
16 Dec 2022 - 13:18
|
- ABCC9
- ABL1
- ACAN
- ACP5
- ACVR1
- ADAMTS10
- ADAMTS17
- ADAMTSL2
- AFF4
- AGA
- AGPS
- AHDC1
- AKT1
- ALG12
- ALG3
- ALG9
- ALPL
- ALX1
- ALX3
- ALX4
- AMER1
- ANAPC1
- ANKH
- ANKRD11
- ANO5
- ANTXR2
- ARHGAP31
- ARID1A
- ARID1B
- ARSL
- ASXL1
- ASXL2
- ATP6V0A2
- B3GALT6
- B3GAT3
- B3GLCT
- B4GALT7
- B9D1
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS5
- BBS7
- BBS9
- BHLHA9
- BMP1
- BMP2
- BMPER
- BMPR1B
- BPNT2
- BVES
- C2CD3
- CA2
- CANT1
- CASR
- CC2D2A
- CCDC134
- CCDC8
- CCN6
- CCNQ
- CD96
- CDC45
- CDC6
- CDH3
- CDKN1C
- CDT1
- CEP120
- CEP290
- CFAP410
- CHD7
- CHST14
- CHST3
- CHSY1
- CILK1
- CKAP2L
- CLCN5
- CLCN7
- COG1
- COG4
- COL10A1
- COL11A1
- COL11A2
- COL1A1
- COL1A2
- COL2A1
- COL9A1
- COL9A2
- COL9A3
- COLEC11
- COMP
- CORIN
- CPLANE1
- CREB3L1
- CREBBP
- CRTAP
- CSF1R
- CSGALNACT1
- CSPP1
- CTSA
- CTSC
- CTSK
- CUL7
- CYP27B1
- CYP2R1
- DCC
- DDR2
- DDX59
- DHCR24
- DHCR7
- DHODH
- DIP2C
- DLL3
- DLL4
- DLX3
- DLX5
- DLX6
- DMP1
- DNMT3A
- DOCK6
- DPAGT1
- DPM1
- DSPP
- DVL1
- DVL3
- DYM
- DYNC2H1
- DYNC2I1
- DYNC2I2
- DYNC2LI1
- DYNLT2B
- EDNRA
- EFNA4
- EFNB1
- EFTUD2
- EIF2AK3
- EIF4A3
- ENPP1
- EOGT
- EP300
- ERCC4
- ERF
- ESCO2
- EVC
- EVC2
- EXT1
- EXT2
- EXTL3
- EZH2
- FAM111A
- FAM20C
- FBLN1
- FBN1
- FBN2
- FBXW4
- FERMT3
- FGF10
- FGF16
- FGF23
- FGF3
- FGF4
- FGF8
- FGF9
- FGFR1
- FGFR2
- FGFR3
- FIG4
- FKBP10
- FLNA
- FLNB
- FMN1
- FREM1
- FUCA1
- FZD2
- GALNS
- GALNT3
- GDF3
- GDF5
- GDF6
- GFER
- GJA1
- GLB1
- GLI3
- GNAS
- GNPAT
- GNPNAT1
- GNPTAB
- GNPTG
- GNS
- GORAB
- GPC6
- GPX4
- GREM1
- GUSB
- GZF1
- HDAC4
- HDAC8
- HES7
- HGSNAT
- HHAT
- HNRNPK
- HOXA11
- HOXA13
- HOXD13
- HPGD
- HS2ST1
- HSPG2
- IDH1
- IDH2
- IDS
- IDUA
- IFIH1
- IFITM5
- IFT122
- IFT140
- IFT172
- IFT43
- IFT52
- IFT80
- IFT81
- IHH
- IKBKG
- IL11RA
- IL1RN
- INPPL1
- KAT6B
- KDELR2
- KIAA0753
- KIAA1217
- KIF22
- KIF7
- KMT2D
- LBR
- LEMD3
- LFNG
- LIFR
- LMBR1
- LMNA
- LMX1B
- LONP1
- LPIN2
- LRP5
- LTBP2
- MAFB
- MAN2B1
- MAN2C1
- MAP3K7
- MASP1
- MATN3
- MBTPS2
- MEGF8
- MEOX1
- MESP2
- MGP
- MIA2
- MIA3
- MKKS
- MKS1
- MMP13
- MMP2
- MMP9
- MNX1
- MPDU1
- MSX2
- MTX2
- MYCN
- MYL11
- NAGLU
- NANS
- NBAS
- NEK1
- NEU1
- NF1
- NFIX
- NIPBL
- NKX3-2
- NLRP3
- NOG
- NOTCH1
- NOTCH2
- NPPC
- NPRL2
- NSD1
- NSDHL
- NXN
- OBSL1
- OFD1
- ORC4
- ORC6
- OSTM1
- P3H1
- P4HB
- PAM16
- PAN2
- PAPSS2
- PAX3
- PCNT
- PCYT1A
- PDE3A
- PDE4D
- PEX5
- PEX7
- PGM3
- PHEX
- PHGDH
- PIGT
- PIGV
- PIK3C2A
- PIK3CA
- PISD
- PITX1
- PLEKHM1
- PLOD2
- PLS3
- POC1A
- POLR1A
- POLR1C
- POLR1D
- PORCN
- PPIB
- PRKAR1A
- PRKG2
- PRMT7
- PSAT1
- PSPH
- PTDSS1
- PTH1R
- PTHLH
- PTPN11
- PUF60
- PYCR1
- RAB23
- RAB33B
- RAD21
- RASGRP2
- RBM8A
- RBPJ
- RECQL4
- RFT1
- RIGI
- RIN1
- RNU4ATAC
- ROR2
- RPGRIP1L
- RPL13
- RUNX2
- SALL1
- SALL4
- SBDS
- SCARF2
- SCUBE3
- SEC24D
- SERPINF1
- SERPINH1
- SETD2
- SF3B4
- SFRP4
- SGSH
- SH3BP2
- SH3PXD2B
- SHH
- SHOX
- SLC10A7
- SLC17A5
- SLC25A15
- SLC26A2
- SLC29A3
- SLC34A1
- SLC34A3
- SLC35C1
- SLC35D1
- SLC39A13
- SLCO2A1
- SLCO5A1
- SLURP1
- SMAD3
- SMAD4
- SMARCAL1
- SMC1A
- SMC3
- SMO
- SMOC1
- SNRPB
- SNX10
- SOST
- SOX9
- SP7
- SPARC
- SUCO
- SULF1
- SUMF1
- TALDO1
- TAPT1
- TBCE
- TBX15
- TBX3
- TBX4
- TBX5
- TBX6
- TBXAS1
- TCF12
- TCIRG1
- TCOF1
- TCTN2
- TCTN3
- TENT5A
- TERT
- TGFB1
- TGFB2
- TGFBR1
- TGFBR2
- THPO
- TMEM165
- TMEM216
- TMEM231
- TMEM38B
- TMEM67
- TNFRSF11A
- TNFRSF11B
- TNFSF11
- TONSL
- TP63
- TRAPPC2
- TREM2
- TRIP11
- TRPS1
- TRPV4
- TRPV6
- TTC21B
- TTC8
- TWIST1
- TYROBP
- VDR
- VPS35L
- WDPCP
- WDR19
- WDR35
- WNT1
- WNT10B
- WNT3
- WNT3A
- WNT5A
- WNT7A
- XRCC4
- XYLT1
- XYLT2
- ZMPSTE24
- ZSWIM6
-
Skeletal dysplasia - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 99.92 1 ABL1 100.00 1 ACAN 91.51 1 ACP5 100.00 1 ACVR1 99.94 1 ADAMTS10 99.99 1 ADAMTS17 99.99 1 ADAMTSL2 99.99 1 AFF4 99.94 1 AGA 99.92 1 AGPS 98.83 1 AHDC1 100.00 1 AKT1 100.00 1 ALG12 100.00 1 ALG3 99.96 1 ALG9 99.73 1 ALPL 99.88 1 ALX1 97.99 1 ALX3 99.74 1 ALX4 100.00 1 AMER1 100.00 1 ANAPC1 75.83 1 ANKH 99.95 1 ANKRD11 99.85 1 ANO5 99.85 1 ANTXR2 99.67 1 ARHGAP31 100.00 1 ARID1A 99.83 1 ARID1B 99.69 1 SLURP1 99.99 1 ARSL 99.93 1 ASXL1 100.00 1 ASXL2 99.82 1 ATP6V0A2 99.92 1 B3GALT6 100.00 1 B3GAT3 87.74 1 B3GLCT 99.90 1 B4GALT7 99.99 1 B9D1 99.80 1 BBS1 100.00 1 BBS10 99.98 1 BBS12 100.00 1 BBS2 99.90 1 BBS4 99.88 1 BBS5 99.00 1 BBS7 99.42 1 BBS9 99.75 1 BHLHA9 100.00 1 BMP1 99.94 1 BMP2 99.79 1 BMPER 99.94 1 BMPR1B 99.61 1 BPNT2 100.00 1 C2CD3 99.88 1 CA2 99.62 1 CANT1 100.00 1 CASR 99.99 1 CC2D2A 99.95 1 CCDC134 100.00 1 CCDC8 100.00 1 CCN6 99.89 1 CCNQ 99.98 1 CD96 99.91 1 CDC45 99.77 1 CDC6 99.85 1 CDH3 99.98 1 CDKN1C 100.00 1 CDT1 100.00 1 CEP120 99.90 1 CEP290 98.10 1 CFAP410 100.00 1 CHD7 99.99 1 CHST14 100.00 1 CHST3 100.00 1 CHSY1 99.99 1 CILK1 99.69 1 CKAP2L 99.54 1 CLCN5 99.67 1 CLCN7 99.99 1 COG1 100.00 1 COG4 99.96 1 COL10A1 100.00 1 COL11A1 90.72 1 COL11A2 99.99 1 COL1A1 99.90 1 COL1A2 99.34 1 COL2A1 99.87 1 COL9A1 99.91 1 COL9A2 98.76 1 COL9A3 99.99 1 COLEC11 100.00 1 COMP 100.00 1 CPLANE1 99.81 1 CREB3L1 99.88 1 CREBBP 99.97 1 CRTAP 99.98 1 CSF1R 99.92 1 CSGALNACT1 100.00 1 CSPP1 98.31 1 CTSA 99.98 1 CTSC 99.97 1 CTSK 99.31 1 CUL7 100.00 1 CYP27B1 99.98 1 CYP2R1 99.96 1 DCC 99.96 1 DDR2 99.58 1 RIGI 99.84 1 DDX59 99.67 1 DHCR24 99.93 1 DHCR7 99.97 1 DHODH 99.99 1 DIP2C 100.00 1 DLL3 100.00 1 DLL4 100.00 1 DLX3 99.98 1 DLX5 99.98 1 DLX6 99.82 1 DMP1 99.99 1 DNMT3A 100.00 1 DOCK6 100.00 1 DPAGT1 100.00 1 DPM1 90.68 1 DSPP 99.99 1 DVL1 100.00 1 DVL3 99.99 1 DYM 99.96 1 DYNC2H1 99.66 1 DYNC2I1 99.99 1 DYNC2I2 99.98 1 DYNC2LI1 99.94 1 DYNLT2B 100.00 1 GLB1 100.00 1 EDNRA 99.97 1 EFNA4 99.92 1 EFNB1 99.95 1 EFTUD2 99.93 1 EIF2AK3 97.43 1 EIF4A3 99.99 1 ENPP1 99.88 1 EOGT 99.09 1 EP300 99.97 1 ERCC4 99.92 1 ERF 99.98 1 ESCO2 99.92 1 EVC 99.95 1 EVC2 99.97 1 EXT1 99.94 1 EXT2 99.98 1 EXTL3 99.99 1 EZH2 99.89 1 FAM111A 100.00 1 FAM20C 100.00 1 FBLN1 98.69 1 FBN1 99.85 1 FBN2 99.90 1 FBXW4 99.31 1 FERMT3 99.99 1 FGF10 99.95 1 FGF16 99.60 1 FGF23 100.00 1 FGF3 99.97 1 FGF4 100.00 1 FGF8 100.00 1 FGF9 100.00 1 FGFR1 100.00 1 FGFR2 99.99 1 FGFR3 100.00 1 FIG4 99.83 1 FKBP10 99.98 1 FLNA 99.99 1 FLNB 99.98 1 FMN1 99.98 1 FREM1 99.98 1 FUCA1 98.72 1 FZD2 99.98 1 GALNS 99.98 1 GALNT3 99.52 1 GDF3 100.00 1 GDF5 100.00 1 GDF6 100.00 1 GFER 100.00 1 GJA1 100.00 1 GLI3 100.00 1 GNAS 100.00 1 GNPAT 99.78 1 GNPNAT1 99.99 1 GNPTAB 99.76 1 GNPTG 100.00 1 GNS 99.59 1 GORAB 99.59 1 GPC6 99.98 1 GPX4 100.00 1 GREM1 100.00 1 GUSB 95.07 1 GZF1 100.00 1 HDAC4 99.98 1 HDAC8 99.74 1 HES7 100.00 1 HGSNAT 99.93 1 HNRNPK 99.93 1 HOXA11 99.99 1 HOXA13 99.94 1 HOXD13 99.98 1 HPGD 99.98 1 HS2ST1 95.79 1 HSPG2 99.87 1 IDH1 99.91 1 IDH2 100.00 1 IDS 99.82 1 IDUA 99.99 1 IFIH1 99.84 1 IFITM5 100.00 1 IFT122 99.98 1 IFT140 100.00 1 IFT172 99.98 1 IFT43 99.97 1 IFT52 99.82 1 IFT80 99.69 1 IFT81 94.64 1 IHH 100.00 1 IKBKG 57.34 1 IL11RA 99.98 1 IL1RN 99.64 1 INPPL1 99.97 1 KAT6B 99.79 1 KDELR2 99.98 1 KIAA0753 100.00 1 KIAA1217 99.99 1 KIF22 99.89 1 KIF7 100.00 1 KMT2D 99.98 1 LBR 99.66 1 LEMD3 99.07 1 LFNG 100.00 1 LIFR 99.69 1 LMBR1 99.88 1 LMNA 99.96 1 LMX1B 100.00 1 LONP1 99.99 1 LPIN2 100.00 1 CORIN 99.89 1 LRP5 99.95 1 LTBP2 99.97 1 MAFB 100.00 1 MAN2B1 99.99 1 MAN2C1 99.96 1 MAP3K7 99.33 1 MASP1 99.99 1 MATN3 99.97 1 MBTPS2 99.81 1 MEGF8 99.90 1 MEOX1 99.99 1 MESP2 99.99 1 MGP 99.95 1 MIA2 99.72 1 MIA3 99.84 1 MKKS 100.00 1 MKS1 99.92 1 MMP13 99.96 1 MMP2 99.96 1 MMP9 100.00 1 MNX1 99.83 1 MPDU1 99.97 1 MSX2 100.00 1 MTX2 99.20 1 MYCN 100.00 1 MYL11 99.85 1 NAGLU 100.00 1 NANS 100.00 1 NBAS 99.86 1 NEK1 99.83 1 NEU1 99.98 1 NF1 99.88 1 NFIX 99.99 1 NIPBL 99.34 1 NKX3-2 99.99 1 NLRP3 100.00 1 NOG 100.00 1 NOTCH1 99.98 1 NOTCH2 99.03 1 NPPC 100.00 1 NPRL2 99.99 1 NSD1 99.98 1 NSDHL 99.87 1 NXN 99.92 1 OBSL1 100.00 1 OFD1 99.68 1 SLC25A15 99.70 1 ORC4 99.70 1 ORC6 99.82 1 OSTM1 99.56 1 P3H1 99.89 1 P4HB 99.99 1 PAM16 100.00 1 PAN2 99.95 1 PAPSS2 99.91 1 PAX3 100.00 1 PCNT 99.97 1 PCYT1A 100.00 1 PDE3A 99.97 1 PDE4D 99.89 1 PEX5 99.89 1 PEX7 99.72 1 PGM3 99.94 1 PHEX 99.83 1 PHGDH 99.79 1 PIGT 99.95 1 PIGV 100.00 1 PIK3C2A 99.92 1 PIK3CA 99.74 1 PISD 100.00 1 PITX1 100.00 1 PLEKHM1 99.77 1 PLOD2 99.66 1 PLS3 99.75 1 POC1A 99.98 1 POLR1A 99.93 1 POLR1C 100.00 1 POLR1D 100.00 1 BVES 99.94 1 PORCN 99.98 1 PPIB 100.00 1 PRKAR1A 100.00 1 PRKG2 99.75 1 PRMT7 99.95 1 PSAT1 99.98 1 PSPH 99.09 1 PTDSS1 99.95 1 PTH1R 99.93 1 PTHLH 99.89 1 PTPN11 99.98 1 PUF60 100.00 1 PYCR1 99.99 1 RAB23 99.97 1 RAB33B 100.00 1 RAD21 99.91 1 RASGRP2 100.00 1 RBM8A 99.37 1 RBPJ 99.96 1 RECQL4 100.00 1 RFT1 99.79 1 RIN1 100.00 1 RNU4ATAC 99.95 1 ROR2 99.99 1 RPGRIP1L 96.35 1 RPL13 99.96 1 RUNX2 100.00 1 SALL1 100.00 1 SALL4 100.00 1 SBDS 99.93 1 SCARF2 99.94 1 SCUBE3 99.96 1 SEC24D 99.94 1 SERPINF1 100.00 1 SERPINH1 100.00 1 SETD2 99.91 1 SF3B4 99.65 1 SFRP4 99.99 1 SGSH 100.00 1 SH3BP2 100.00 1 SH3PXD2B 100.00 1 SHH 100.00 1 SHOX 92.70 1 HHAT 99.98 1 SLC10A7 99.95 1 SLC17A5 99.71 1 SLC26A2 100.00 1 SLC29A3 99.98 1 SLC34A1 99.99 1 SLC34A3 100.00 1 SLC35C1 100.00 1 SLC35D1 87.50 1 SLC39A13 99.98 1 SLCO2A1 99.99 1 SLCO5A1 99.98 1 SMAD3 99.99 1 SMAD4 99.97 1 SMARCAL1 99.97 1 SMC1A 99.98 1 SMC3 99.91 1 SMO 99.99 1 SMOC1 100.00 1 SNRPB 99.96 1 SNX10 99.96 1 SOST 100.00 1 SOX9 100.00 1 SP7 100.00 1 SPARC 99.94 1 SUCO 98.05 1 SULF1 99.99 1 SUMF1 99.95 1 TALDO1 100.00 1 TAPT1 99.64 1 TBCE 99.91 1 TBX15 99.81 1 TBX3 100.00 1 TBX4 99.96 1 TBX5 99.98 1 TBX6 99.99 1 TBXAS1 100.00 1 TCF12 99.97 1 TCIRG1 99.99 1 TCOF1 99.99 1 TCTN2 99.99 1 TCTN3 99.92 1 TENT5A 99.97 1 TERT 100.00 1 TGFB1 100.00 1 TGFB2 99.87 1 TGFBR1 99.94 1 TGFBR2 99.98 1 THPO 100.00 1 TMEM165 99.97 1 TMEM216 99.98 1 TMEM231 88.88 1 TMEM38B 99.95 1 TMEM67 99.69 1 TNFRSF11A 100.00 1 TNFRSF11B 100.00 1 TNFSF11 99.89 1 TONSL 100.00 1 TP63 99.97 1 TRAPPC2 99.41 1 TREM2 100.00 1 TRIP11 99.90 1 TRPS1 100.00 1 TRPV4 100.00 1 TRPV6 99.99 1 TTC21B 99.50 1 TTC8 99.67 1 TWIST1 100.00 1 TYROBP 99.95 1 VDR 99.86 1 VPS35L 99.07 1 WDPCP 99.87 1 WDR19 99.80 1 WDR35 99.92 1 WNT1 99.97 1 WNT10B 99.97 1 WNT3 99.99 1 WNT3A 100.00 1 WNT5A 100.00 1 WNT7A 99.99 1 XRCC4 99.89 1 XYLT1 99.98 1 XYLT2 99.97 1 ZMPSTE24 98.70 1 ZSWIM6 98.94 1