- Genetic tests
- Skeletal dysplasia (gene panel)
Skeletal dysplasia (gene panel)
Full name: |
Skeletal dysplasia (gene panel)
|
Test type: |
Clinical
|
Test specialty: |
Molecular Genetics
|
Test purpose: |
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Pre-implantation genetic diagnosis,
Prenatal diagnosis
|
Specimen: |
Peripheral (whole) blood on EDTA,
Frozen tissue,
Fresh tissue,
Amniotic fluid,
Chorionic villi,
Cell culture,
Skin fibroblasts
|
Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
EQA: |
|
Accreditation (ISO 15189): |
2021-10-07 / 2026-06-14
|
Turnaround time (maximum): |
6 months (2 months for prenatal testing)
|
Document(s): | |
Created: |
28 Aug 2019 - 13:01
|
Changed: |
09 Mar 2023 - 16:29
|
URL: |
- ABCC9
- ABL1
- ACAN
- ACP4
- ACP5
- ACVR1
- ADAMTS10
- ADAMTS17
- ADAMTSL2
- AFF4
- AGA
- AGPS
- AHDC1
- AKT1
- ALPL
- ALX1
- ALX3
- ALX4
- AMER1
- ANKH
- ANO5
- ANTXR2
- APC
- ARCN1
- ARHGAP31
- ARID1A
- ARID1B
- ARSL
- ASCC1
- ASXL2
- ATP6V0A2
- B3GALT6
- B3GAT3
- B4GALT7
- BGN
- BHLHA9
- BMP1
- BMP2
- BMPER
- BMPR1B
- BPNT2
- BRIP1
- BVES
- C1R
- C1S
- C2CD3
- CA2
- CANT1
- CASR
- CC2D2A
- CCDC8
- CCN6
- CCNQ
- CD96
- CDC45
- CDC6
- CDH3
- CDKN1C
- CDT1
- CEP120
- CEP290
- CHD7
- CHST14
- CHST3
- CHSY1
- CILK1
- CKAP2L
- CLCN5
- CLCN7
- COG1
- COL10A1
- COL11A1
- COL11A2
- COL1A1
- COL1A2
- COL2A1
- COL9A1
- COL9A2
- COL9A3
- COMP
- CORIN
- CPLANE1
- CREB3L1
- CREBBP
- CRTAP
- CSPP1
- CTSA
- CTSK
- CUL7
- CYP26B1
- DDR2
- DDX59
- DHCR24
- DHODH
- DLL3
- DLX3
- DLX5
- DLX6
- DMP1
- DOCK6
- DVL1
- DVL3
- DYM
- DYNC2H1
- DYNC2I2
- DYNC2LI1
- EDNRA
- EFNA4
- EFNB1
- EFTUD2
- EIF2AK3
- EIF4A3
- ELMO2
- ENPP1
- EOGT
- EP300
- ERCC4
- ERF
- ESCO2
- EVC
- EVC2
- EXT1
- EXT2
- EZH2
- FAM111A
- FAM20C
- FANCA
- FANCB
- FANCC
- FANCD2
- FANCE
- FANCF
- FANCG
- FANCI
- FANCL
- FBLN1
- FBN1
- FBN2
- FBXW4
- FERMT3
- FGF10
- FGF16
- FGF23
- FGF3
- FGF4
- FGF8
- FGF9
- FGFR1
- FGFR2
- FGFR3
- FIG4
- FKBP10
- FLNA
- FLNB
- FMN1
- FN1
- FREM1
- FUCA1
- FZD2
- GALNS
- GALNT3
- GDF3
- GDF5
- GDF6
- GJA1
- GLB1
- GLI3
- GNAS
- GNPAT
- GNPTAB
- GNPTG
- GNS
- GORAB
- GPC3
- GPC6
- GPR68
- GPX4
- GREM1
- GUSB
- HDAC4
- HDAC8
- HES7
- HHAT
- HOXA11
- HOXA13
- HOXD13
- HPGD
- HSPG2
- HUWE1
- IDH1
- IDH2
- IDS
- IFITM5
- IFT122
- IFT140
- IFT172
- IFT43
- IFT80
- IGF1R
- IHH
- IKBKG
- IL11RA
- IL1RN
- INPPL1
- JAG1
- KAT6B
- KIF22
- KIF7
- KRAS
- LBR
- LEMD3
- LFNG
- LIFR
- LMBR1
- LMNA
- LMX1B
- LONP1
- LPIN2
- LRIT3
- LRP5
- LTBP2
- LTBP3
- MAB21L2
- MAFB
- MAN2B1
- MAN2C1
- MAP3K7
- MATN3
- MEGF8
- MEOX1
- MESP2
- MGP
- MITF
- MKS1
- MMP13
- MMP2
- MMP9
- MNX1
- MSX2
- MYCN
- MYT1
- NAGLU
- NEK1
- NEU1
- NF1
- NFIX
- NIPBL
- NKX3-2
- NLRP3
- NOG
- NOTCH2
- NPRL2
- NSD1
- NSDHL
- NTRK2
- OBSL1
- OFD1
- ORC4
- ORC6
- OSTM1
- P3H1
- P4HB
- PALB2
- PAM16
- PANK2
- PAPSS2
- PCNT
- PCYT1A
- PDE3A
- PDE4D
- PEX7
- PGM3
- PHEX
- PIGV
- PIK3CA
- PITX1
- PLEKHM1
- PLOD2
- PLS3
- POLR1A
- POLR1C
- POLR1D
- PORCN
- PPIB
- PRKAR1A
- PROK2
- PTDSS1
- PTH1R
- PTHLH
- PTPN11
- PYCR1
- RAB23
- RAB33B
- RAD21
- RAD51C
- RASGRP2
- RBM8A
- RBPJ
- RECQL4
- RIGI
- RMRP
- RNU4ATAC
- ROR2
- RPGRIP1L
- RSPO2
- RSPRY1
- RUNX2
- SALL1
- SALL4
- SBDS
- SEC24D
- SERPINF1
- SERPINH1
- SETD2
- SF3B4
- SH3BP2
- SH3PXD2B
- SHOX
- SLC17A5
- SLC25A15
- SLC26A2
- SLC29A3
- SLC34A3
- SLC35D1
- SLC39A13
- SLCO5A1
- SLURP1
- SLX4
- SMAD3
- SMAD4
- SMARCA2
- SMARCA4
- SMARCAL1
- SMARCB1
- SMC1A
- SMC3
- SMO
- SNRPB
- SNX10
- SOST
- SOX6
- SOX9
- SP7
- STAT3
- SULF1
- SUMF1
- TBCE
- TBX15
- TBX3
- TBX4
- TBX5
- TBX6
- TBXAS1
- TCF12
- TCIRG1
- TCOF1
- TCTN3
- TGDS
- TGFB1
- TGFB2
- TGFBR1
- TGFBR2
- THPO
- TMCO1
- TMEM216
- TMEM38B
- TMEM67
- TNFRSF11B
- TP63
- TRAPPC2
- TREM2
- TRIP11
- TRIP4
- TRPS1
- TRPV4
- TTC21B
- TWIST1
- TYROBP
- UBE2T
- WDR19
- WDR35
- WNT1
- WNT10B
- WNT3
- WNT5A
- WNT6
- WNT7A
- XYLT1
- XYLT2
- ZEB2
- ZIC1
- ZMPSTE24
- ZSWIM6
-
Skeletal dysplasia (394 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 100.00 0 No comment ABL1 100.00 0 No comment ACAN 98.89 0 No comment ACP4 100.00 0 No comment ACP5 100.00 0 No comment ACVR1 100.00 0 No comment ADAMTS10 99.88 0 No comment ADAMTS17 89.95 0 No comment ADAMTSL2 100.00 0 No comment AFF4 100.00 0 No comment AGA 100.00 0 No comment AGPS 100.00 0 No comment AHDC1 100.00 0 No comment AKT1 100.00 0 No comment ALPL 100.00 0 No comment ALX1 100.00 0 No comment ALX3 91.36 0 No comment ALX4 99.70 0 No comment AMER1 100.00 0 No comment ANKH 100.00 0 No comment ANO5 100.00 0 No comment ANTXR2 100.00 0 No comment APC 100.00 0 No comment ARCN1 100.00 0 No comment ARHGAP31 100.00 0 No comment ARID1A 94.64 0 No comment ARID1B 92.99 0 No comment SLURP1 85.73 0 No comment ARSL 100.00 0 No comment ASCC1 91.27 0 No comment ASXL2 100.00 0 No comment ATP6V0A2 100.00 0 No comment B3GALT6 56.12 0 No comment B3GAT3 95.56 0 No comment B4GALT7 93.23 0 No comment BGN 100.00 0 No comment BHLHA9 38.48 0 No comment BMP1 99.86 0 No comment BMP2 100.00 0 No comment BMPER 100.00 0 No comment BMPR1B 100.00 0 No comment BRIP1 100.00 0 No comment C1R 100.00 0 No comment C1S 100.00 0 No comment C2CD3 100.00 0 No comment CA2 100.00 0 No comment CANT1 100.00 0 No comment CASR 100.00 0 No comment CC2D2A 98.16 0 No comment CCDC8 100.00 0 No comment CCN6 100.00 0 No comment CCNQ 84.41 0 No comment CD96 100.00 0 No comment CDC45 100.00 0 No comment CDC6 100.00 0 No comment CDH3 100.00 0 No comment CDKN1C 62.25 0 No comment CDT1 87.95 0 No comment CEP120 100.00 0 No comment CEP290 99.99 0 No comment CHD7 100.00 0 No comment CHST14 98.57 0 No comment CHST3 100.00 0 No comment CHSY1 91.67 0 No comment CKAP2L 100.00 0 No comment CLCN5 100.00 0 No comment CLCN7 94.99 0 No comment COG1 99.24 0 No comment COL10A1 100.00 0 No comment COL11A1 100.00 0 No comment COL11A2 99.14 0 No comment COL1A1 100.00 0 No comment COL1A2 99.93 0 No comment COL2A1 100.00 0 No comment COL9A1 100.00 0 No comment COL9A2 100.00 0 No comment COL9A3 96.41 0 No comment COMP 99.90 0 No comment CPLANE1 100.00 0 No comment CREB3L1 100.00 0 No comment CREBBP 100.00 0 No comment CRTAP 89.72 0 No comment CSPP1 100.00 0 No comment CTSA 100.00 0 No comment CTSK 100.00 0 No comment CUL7 99.99 0 No comment CYP26B1 100.00 0 No comment DDR2 100.00 0 No comment RIGI 100.00 0 No comment DDX59 100.00 0 No comment DHCR24 99.96 0 No comment DHODH 100.00 0 No comment DLL3 78.42 0 No comment DLX3 100.00 0 No comment DLX5 100.00 0 No comment DLX6 99.69 0 No comment DMP1 100.00 0 No comment DOCK6 99.12 0 No comment DVL1 100.00 0 No comment DVL3 100.00 0 No comment DYM 100.00 0 No comment DYNC2H1 100.00 0 No comment DYNC2LI1 100.00 0 No comment GLB1 100.00 0 No comment EDNRA 100.00 0 No comment EFNA4 100.00 0 No comment EFNB1 100.00 0 No comment EFTUD2 100.00 0 No comment EIF2AK3 95.52 0 No comment EIF4A3 100.00 0 No comment ELMO2 100.00 0 No comment ENPP1 96.48 0 No comment EOGT 100.00 0 No comment EP300 100.00 0 No comment ERCC4 100.00 0 No comment ERF 100.00 0 No comment ESCO2 100.00 0 No comment EVC 94.45 0 No comment EVC2 99.55 0 No comment EXT1 100.00 0 No comment EXT2 100.00 0 No comment EZH2 100.00 0 No comment FAM111A 100.00 0 No comment FAM20C 92.71 0 No comment FANCA 99.70 0 No comment FANCB 100.00 0 No comment FANCC 100.00 0 No comment FANCD2 100.00 0 No comment FANCE 91.17 0 No comment FANCF 100.00 0 No comment FANCG 100.00 0 No comment FANCI 100.00 0 No comment FANCL 100.00 0 No comment FBLN1 95.59 0 No comment FBN1 100.00 0 No comment FBN2 100.00 0 No comment FBXW4 92.44 0 No comment FERMT3 100.00 0 No comment FGF10 100.00 0 No comment FGF16 100.00 0 No comment FGF23 100.00 0 No comment FGF3 80.02 0 No comment FGF4 70.06 0 No comment FGF8 94.82 0 No comment FGF9 100.00 0 No comment FGFR1 100.00 0 No comment FGFR2 100.00 0 No comment FGFR3 99.26 0 No comment FIG4 100.00 0 No comment FKBP10 100.00 0 No comment FLNA 100.00 0 No comment FLNB 100.00 0 No comment FMN1 100.00 0 No comment FN1 100.00 0 No comment FREM1 100.00 0 No comment FUCA1 100.00 0 No comment FZD2 98.72 0 No comment GALNS 96.18 0 No comment GALNT3 100.00 0 No comment GDF3 100.00 0 No comment GDF5 100.00 0 No comment GDF6 93.56 0 No comment GJA1 100.00 0 No comment GLI3 100.00 0 No comment GNAS 98.96 0 No comment GNPAT 100.00 0 No comment GNPTAB 100.00 0 No comment GNPTG 94.69 0 No comment GNS 100.00 0 No comment GORAB 100.00 0 No comment GPC3 100.00 0 No comment GPC6 100.00 0 No comment GPR68 100.00 0 No comment GPX4 87.15 0 No comment GREM1 100.00 0 No comment GUSB 100.00 0 No comment HDAC4 100.00 0 No comment HDAC8 100.00 0 No comment HES7 99.67 0 No comment HOXA11 99.40 0 No comment HOXA13 73.35 0 No comment HOXD13 80.52 0 No comment HPGD 99.99 0 No comment HSPG2 99.43 0 No comment HUWE1 100.00 0 No comment CILK1 100.00 0 No comment IDH1 100.00 0 No comment IDH2 92.01 0 No comment IDS 100.00 0 No comment IFITM5 100.00 0 No comment IFT122 100.00 0 No comment IFT140 100.00 0 No comment IFT172 100.00 0 No comment IFT43 100.00 0 No comment IFT80 100.00 0 No comment IGF1R 100.00 0 No comment IHH 99.88 0 No comment IKBKG 99.74 0 No comment IL11RA 100.00 0 No comment IL1RN 100.00 0 No comment BPNT2 98.65 0 No comment INPPL1 96.74 0 No comment JAG1 99.66 0 No comment KAT6B 100.00 0 No comment KIF22 100.00 0 No comment KIF7 96.94 0 No comment KRAS 100.00 0 No comment LBR 100.00 0 No comment LEMD3 100.00 0 No comment LFNG 82.55 0 No comment LIFR 100.00 0 No comment LMBR1 100.00 0 No comment LMNA 99.93 0 No comment LMX1B 99.99 0 No comment LONP1 99.83 0 No comment LPIN2 100.00 0 No comment LRIT3 100.00 0 No comment CORIN 98.90 0 No comment LRP5 97.87 0 No comment LTBP2 100.00 0 No comment LTBP3 96.02 0 No comment MAB21L2 100.00 0 No comment MAFB 99.89 0 No comment MAN2B1 100.00 0 No comment MAN2C1 100.00 0 No comment MAP3K7 100.00 0 No comment MATN3 86.25 0 No comment MEGF8 99.99 0 No comment MEOX1 100.00 0 No comment MESP2 100.00 0 No comment MGP 100.00 0 No comment MITF 100.00 0 No comment MKS1 100.00 0 No comment MMP13 100.00 0 No comment MMP2 100.00 0 No comment MMP9 100.00 0 No comment MNX1 71.50 0 No comment MSX2 100.00 0 No comment MYCN 86.70 0 No comment MYT1 100.00 0 No comment NAGLU 87.38 0 No comment NEK1 100.00 0 No comment NEU1 100.00 0 No comment NF1 99.95 0 No comment NFIX 97.15 0 No comment NIPBL 99.98 0 No comment NKX3-2 96.89 0 No comment NLRP3 100.00 0 No comment NOG 100.00 0 No comment NOTCH2 99.76 0 No comment NPRL2 100.00 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment NTRK2 100.00 0 No comment OBSL1 98.31 0 No comment OFD1 99.88 0 No comment SLC25A15 100.00 0 No comment ORC4 100.00 0 No comment ORC6 100.00 0 No comment OSTM1 99.55 0 No comment P3H1 99.77 0 No comment P4HB 99.90 0 No comment PALB2 100.00 0 No comment PAM16 96.78 0 No comment PANK2 98.60 0 No comment PAPSS2 100.00 0 No comment PCNT 100.00 0 No comment PCYT1A 100.00 0 No comment PDE3A 100.00 0 No comment PDE4D 98.77 0 No comment PEX7 91.13 0 No comment PGM3 99.99 0 No comment PHEX 100.00 0 No comment PIGV 100.00 0 No comment PIK3CA 100.00 0 No comment PITX1 98.27 0 No comment PLEKHM1 100.00 0 No comment PLOD2 100.00 0 No comment PLS3 100.00 0 No comment POLR1A 100.00 0 No comment POLR1C 100.00 0 No comment POLR1D 100.00 0 No comment BVES 100.00 0 No comment PORCN 100.00 0 No comment PPIB 100.00 0 No comment PRKAR1A 100.00 0 No comment PROK2 98.51 0 No comment PTDSS1 100.00 0 No comment PTH1R 99.01 0 No comment PTHLH 100.00 0 No comment PTPN11 98.80 0 No comment PYCR1 100.00 0 No comment RAB23 100.00 0 No comment RAB33B 100.00 0 No comment RAD21 100.00 0 No comment RAD51C 100.00 0 No comment RASGRP2 100.00 0 No comment RBM8A 100.00 0 No comment RBPJ 100.00 0 No comment RECQL4 96.37 0 No comment RMRP 100.00 0 No comment RNU4ATAC 100.00 0 No comment ROR2 98.67 0 No comment RPGRIP1L 96.45 0 No comment RSPO2 100.00 0 No comment RSPRY1 100.00 0 No comment RUNX2 98.51 0 No comment SALL1 100.00 0 No comment SALL4 100.00 0 No comment SBDS 100.00 0 No comment SEC24D 100.00 0 No comment SERPINF1 100.00 0 No comment SERPINH1 100.00 0 No comment SETD2 100.00 0 No comment SF3B4 100.00 0 No comment SH3BP2 91.63 0 No comment SH3PXD2B 99.68 0 No comment SHOX 90.47 0 No comment HHAT 90.28 0 No comment SLC17A5 100.00 0 No comment SLC26A2 99.96 0 No comment SLC29A3 98.83 0 No comment SLC34A3 100.00 0 No comment SLC35D1 99.99 0 No comment SLC39A13 100.00 0 No comment SLCO5A1 100.00 0 No comment SLX4 100.00 0 No comment SMAD3 100.00 0 No comment SMAD4 100.00 0 No comment SMARCA2 98.07 0 No comment SMARCA4 100.00 0 No comment SMARCAL1 100.00 0 No comment SMARCB1 100.00 0 No comment SMC1A 100.00 0 No comment SMC3 100.00 0 No comment SMO 94.17 0 No comment SNRPB 100.00 0 No comment SNX10 100.00 0 No comment SOST 99.39 0 No comment SOX6 100.00 0 No comment SOX9 97.88 0 No comment SP7 100.00 0 No comment STAT3 100.00 0 No comment SULF1 100.00 0 No comment SUMF1 100.00 0 No comment TBCE 100.00 0 No comment TBX15 100.00 0 No comment TBX3 99.88 0 No comment TBX4 94.32 0 No comment TBX5 100.00 0 No comment TBX6 100.00 0 No comment TBXAS1 100.00 0 No comment TCF12 100.00 0 No comment TCIRG1 100.00 0 No comment TCOF1 99.99 0 No comment TCTN3 100.00 0 No comment TGDS 100.00 0 No comment TGFB1 99.97 0 No comment TGFB2 100.00 0 No comment TGFBR1 92.91 0 No comment TGFBR2 100.00 0 No comment THPO 100.00 0 No comment TMCO1 100.00 0 No comment TMEM216 100.00 0 No comment TMEM38B 100.00 0 No comment TMEM67 100.00 0 No comment TNFRSF11B 100.00 0 No comment TP63 100.00 0 No comment TRAPPC2 95.31 0 No comment TREM2 100.00 0 No comment TRIP11 100.00 0 No comment TRIP4 100.00 0 No comment TRPS1 100.00 0 No comment TRPV4 100.00 0 No comment TTC21B 100.00 0 No comment TWIST1 70.93 0 No comment TYROBP 100.00 0 No comment UBE2T 100.00 0 No comment WDR19 100.00 0 No comment DYNC2I2 93.01 0 No comment WDR35 100.00 0 No comment WNT1 98.70 0 No comment WNT10B 98.99 0 No comment WNT3 100.00 0 No comment WNT5A 99.97 0 No comment WNT6 96.35 0 No comment WNT7A 100.00 0 No comment XYLT1 88.83 0 No comment XYLT2 98.70 0 No comment ZEB2 100.00 0 No comment ZIC1 100.00 0 No comment ZMPSTE24 100.00 0 No comment ZSWIM6 88.87 0 No comment