- Genetic tests
- Dermatogenetic panel, severe, rare and hereditary genodermatoses (gene panel - 394 genes)
Dermatogenetic panel, severe, rare and hereditary genodermatoses (gene panel - 394 genes)
Full name: |
Dermatogenetic panel, severe, rare and hereditary genodermatoses (gene panel - 394 genes)
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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: | |
Turnaround time (maximum): |
6 months
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Document(s): |
Demande-postnat_0723_V9_FR.pdf424.89 KB
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Created: |
22 Aug 2019 - 11:00
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Changed: |
17 Aug 2023 - 11:20
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URL: |
- A2ML1
- AAGAB
- ABCA12
- ABCB6
- ABCC6
- ABHD5
- ACD
- ADAM10
- ADAMTS2
- ADAR
- AIM1
- AKT1
- ALDH18A1
- ALDH3A2
- ALOX12B
- ALOXE3
- ANTXR1
- AP1S1
- AP3B1
- APCDD1
- AQP5
- ARHGAP31
- ARSL
- ASAH1
- ATM
- ATP2A2
- ATP2C1
- ATP6V0A2
- ATP6V1A
- ATP6V1E1
- ATP7A
- AXIN2
- B3GALT6
- B4GALT7
- BANF1
- BCS1L
- BLM
- BLOC1S3
- BLOC1S6
- BRAF
- CARD14
- CBL
- CBS
- CD151
- CDH3
- CDK4
- CDKN1B
- CDKN2A
- CDSN
- CERS3
- CHST14
- CHST8
- CHUK
- CLCF1
- CLDN1
- CLDN10
- COG6
- COL11A1
- COL12A1
- COL17A1
- COL1A1
- COL1A2
- COL3A1
- COL5A1
- COL5A2
- COL7A1
- CREBBP
- CRLF1
- CSTA
- CTC1
- CTSC
- CYLD
- CYP26C1
- CYP4F22
- DDB2
- DIP2B
- DKC1
- DLL4
- DLX3
- DNMT1
- DOCK6
- DOLK
- DSC3
- DSE
- DSG1
- DSG2
- DSG4
- DSP
- DST
- DTNBP1
- ECM1
- EDA
- EDAR
- EDARADD
- EDN3
- EDNRB
- EFEMP2
- ELN
- ELOVL4
- ELP1
- ENPP1
- EOGT
- EP300
- EPG5
- ERCC2
- ERCC3
- ERCC4
- ERCC5
- ERCC6
- ERCC8
- EVC
- EVC2
- EXPH5
- F12
- FAM111B
- FAM83G
- FBLN5
- FBN1
- FBN2
- FERMT1
- FGFR1
- FGFR2
- FGFR3
- FH
- FKBP14
- FLCN
- FLG2
- FOXN1
- FZD6
- GALNT3
- GAN
- GBA1
- GGCX
- GHR
- GJA1
- GJB2
- GJB3
- GJB4
- GJB6
- GLA
- GLB1
- GNAS
- GORAB
- GPR143
- GRHL2
- GSN
- GTF2E2
- GTF2H5
- HAMP
- HCCS
- HDAC8
- HFE
- HGD
- HHAT
- HJV
- HLCS
- HOXC13
- HPGD
- HPS1
- HPS3
- HPS4
- HPS5
- HPS6
- HR
- HRAS
- IFT122
- IFT43
- IKBKG
- IL31RA
- INSR
- ITGA3
- ITGA6
- ITGB4
- JUP
- KANK2
- KCNH1
- KCTD1
- KDF1
- KDM6A
- KDSR
- KIF1A
- KIT
- KITLG
- KL
- KLHL24
- KLLN
- KMT2D
- KRAS
- KREMEN1
- KRT1
- KRT10
- KRT14
- KRT16
- KRT17
- KRT2
- KRT5
- KRT6A
- KRT6B
- KRT6C
- KRT71
- KRT74
- KRT81
- KRT83
- KRT85
- KRT86
- KRT9
- LAMA4
- LAMB3
- LAMC2
- LEMD3
- LIPH
- LIPN
- LMNA
- LMX1B
- LORICRIN
- LPAR6
- LRMDA
- LRP1
- LTBP4
- LYST
- LZTR1
- MAP2K1
- MAP2K2
- MAPRE2
- MBTPS2
- MC1R
- MEN1
- MITF
- MLH1
- MLPH
- MMP1
- MMP2
- MPDU1
- MPLKIP
- MSH2
- MSH6
- MSMO1
- MSX1
- MUTYH
- MYO5A
- NECTIN1
- NECTIN4
- NF1
- NF2
- NFKBIA
- NGF
- NHP2
- NIPAL4
- NIPBL
- NOP10
- NOTCH1
- NRAS
- NSDHL
- NT5C3A
- NTRK1
- OCA2
- OFD1
- ORAI1
- OSMR
- PADI3
- PARN
- PAX3
- PDGFRB
- PEX7
- PHYH
- PIGL
- PIK3CA
- PKP1
- PLCD1
- PLEC
- PLOD1
- PLOD3
- PMS2
- PNPLA1
- POFUT1
- POGLUT1
- POLD1
- POLH
- PORCN
- PPP1CB
- PRDM12
- PRDM5
- PRKAR1A
- PRKD1
- PSAT1
- PSENEN
- PTCH1
- PTCH2
- PTDSS1
- PTEN
- PTPN11
- PYCR1
- RAB27A
- RAD21
- RAF1
- RASA2
- RBPJ
- RECQL4
- RET
- RETREG1
- RHBDF2
- RIN2
- RIPK4
- RIT1
- RMRP
- RNF113A
- RPL21
- RRAS
- RSPO1
- RTEL1
- SASH1
- SCN11A
- SCN9A
- SDHB
- SDHD
- SEC23B
- SERPINB7
- SERPINB8
- SERPING1
- SETBP1
- SGPL1
- SHOC2
- SKIC2
- SKIC3
- SLC24A5
- SLC27A4
- SLC29A3
- SLC2A10
- SLC39A13
- SLC39A4
- SLC45A2
- SLC6A19
- SLURP1
- SMAD3
- SMARCAD1
- SMARCB1
- SMC3
- SMPD1
- SNAI2
- SNAP29
- SNRPE
- SOS1
- SOS2
- SOX10
- SPINK5
- SPRED1
- SPRY1
- SPTLC1
- SRD5A3
- ST14
- STK11
- STS
- SUFU
- SULT2B1
- SUMF1
- TAT
- TCHH
- TERC
- TERT
- TFR2
- TGFB2
- TGFB3
- TGFBR1
- TGFBR2
- TGM1
- TGM3
- TGM5
- TINF2
- TMC6
- TNXB
- TP63
- TRPS1
- TRPV3
- TSC1
- TSC2
- TUBB
- TWIST2
- TYR
- TYRP1
- UBR1
- USB1
- UVSSA
- VPS33B
- WDR19
- WDR35
- WNK1
- WNT10A
- WRAP53
- WRN
- XPA
- XPC
- ZMPSTE24
- ZNF469
- ZNF750
-
Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 100.00 0 AAGAB 97.88 0 ABCA12 100.00 0 ABCB6 100.00 0 ABCC6 99.97 0 ABHD5 100.00 0 ACD 100.00 0 ADAM10 100.00 0 ADAMTS2 95.82 0 ADAR 100.00 0 AIM1 100.00 0 AKT1 100.00 0 ALDH18A1 100.00 0 ALDH3A2 99.94 0 ALOX12B 100.00 0 ALOXE3 100.00 0 ANTXR1 100.00 0 AP1S1 100.00 0 AP3B1 100.00 0 APCDD1 99.97 0 AQP5 99.87 0 ARHGAP31 100.00 0 ARSL 99.95 0 ASAH1 100.00 0 ATM 100.00 0 ATP2A2 100.00 0 ATP2C1 100.00 0 ATP6V0A2 99.98 0 ATP6V1A 100.00 0 ATP6V1E1 99.99 0 ATP7A 100.00 0 AXIN2 100.00 0 B3GALT6 63.11 0 B4GALT7 90.91 0 BANF1 97.55 0 BCS1L 100.00 0 BLM 100.00 0 BLOC1S3 95.69 0 BLOC1S6 100.00 0 BRAF 96.86 0 LRMDA 100.00 0 KDF1 100.00 0 CARD14 99.96 0 CBL 100.00 0 CBS 99.92 0 CD151 99.99 0 CDH3 100.00 0 CDK4 100.00 0 CDKN1B 100.00 0 CDKN2A 99.69 0 CDSN 99.93 0 CERS3 100.00 0 CHST14 99.81 0 CHST8 100.00 0 CHUK 99.59 0 CLCF1 100.00 0 CLDN1 100.00 0 CLDN10 100.00 0 COG6 100.00 0 COL11A1 100.00 0 COL12A1 100.00 0 COL17A1 100.00 0 COL1A1 100.00 0 COL1A2 99.41 0 COL3A1 99.99 0 COL5A1 98.23 0 COL5A2 100.00 0 COL7A1 100.00 0 CREBBP 99.98 0 CRLF1 89.67 0 CSTA 100.00 0 CTC1 99.71 0 CTSC 100.00 0 CYLD 100.00 0 CYP26C1 97.30 0 CYP4F22 99.27 0 DDB2 100.00 0 DIP2B 99.71 0 DKC1 99.92 0 DLL4 100.00 0 DLX3 99.95 0 DNMT1 99.69 0 DOCK6 99.13 0 DOLK 100.00 0 DSC3 98.96 0 DSE 100.00 0 DSG1 100.00 0 DSG2 99.89 0 DSG4 100.00 0 DSP 100.00 0 DST 100.00 0 DTNBP1 99.96 0 GLB1 100.00 0 ECM1 100.00 0 EDA 99.05 0 EDAR 100.00 0 EDARADD 100.00 0 EDN3 99.95 0 EDNRB 100.00 0 EFEMP2 100.00 0 ELN 99.96 0 ELOVL4 100.00 0 ENPP1 97.25 0 EOGT 100.00 0 EP300 100.00 0 EPG5 99.99 0 ERCC2 99.35 0 ERCC3 100.00 0 ERCC4 99.99 0 ERCC5 100.00 0 ERCC6 100.00 0 ERCC8 100.00 0 EVC 94.53 0 EVC2 98.69 0 EXPH5 100.00 0 F12 99.81 0 FAM111B 100.00 0 RETREG1 93.87 0 FAM83G 100.00 0 FBLN5 100.00 0 FBN1 100.00 0 FBN2 100.00 0 FERMT1 99.96 0 FGFR2 100.00 0 FGFR3 99.36 0 FH 100.00 0 FKBP14 100.00 0 FLCN 100.00 0 FGFR1 100.00 0 FLG2 100.00 0 FOXN1 100.00 0 FZD6 100.00 0 GALNT3 100.00 0 GAN 98.95 0 GBA1 100.00 0 GGCX 99.91 0 GHR 99.21 0 GJA1 100.00 0 GJB2 100.00 0 GJB3 100.00 0 GJB4 100.00 0 GJB6 100.00 0 GLA 100.00 0 GNAS 100.00 0 GORAB 100.00 0 GPR143 89.17 0 GRHL2 100.00 0 GSN 97.95 0 GTF2E2 100.00 0 GTF2H5 100.00 0 HAMP 100.00 0 HCCS 100.00 0 HDAC8 99.82 0 HFE 100.00 0 HJV 100.00 0 HGD 100.00 0 HLCS 100.00 0 HOXC13 96.56 0 HPGD 99.87 0 HPS1 100.00 0 HPS3 99.99 0 HPS4 99.99 0 HPS5 100.00 0 HPS6 96.32 0 HR 99.78 0 HRAS 100.00 0 IFT122 99.99 0 IFT43 100.00 0 ELP1 100.00 0 IKBKG 96.27 0 IL31RA 100.00 0 INSR 96.81 0 ITGA3 99.99 0 ITGA6 100.00 0 ITGB4 98.77 0 JUP 100.00 0 KANK2 99.99 0 KCNH1 100.00 0 KCTD1 100.00 0 KDM6A 99.63 0 KDSR 99.98 0 KIF1A 99.07 0 KIT 99.98 0 KITLG 100.00 0 KL 96.52 0 KLHL24 100.00 0 KLLN 100.00 0 KMT2D 99.99 0 KRAS 100.00 0 KREMEN1 92.10 0 KRT1 99.80 0 KRT10 99.93 0 KRT14 100.00 0 KRT16 99.48 0 KRT17 92.10 0 KRT2 100.00 0 KRT5 100.00 0 KRT6A 100.00 0 KRT6B 100.00 0 KRT6C 99.44 0 KRT71 99.95 0 KRT74 99.99 0 KRT81 100.00 0 KRT83 99.99 0 KRT85 99.27 0 KRT86 99.98 0 KRT9 100.00 0 LAMA4 99.75 0 LAMB3 100.00 0 LAMC2 99.43 0 LEMD3 99.97 0 LIPH 100.00 0 LIPN 100.00 0 LMNA 99.52 0 LMX1B 99.55 0 LORICRIN 100.00 0 LPAR6 100.00 0 LRP1 100.00 0 LTBP4 99.49 0 LYST 100.00 0 LZTR1 99.92 0 MAP2K1 100.00 0 MAP2K2 99.99 0 MAPRE2 100.00 0 MBTPS2 100.00 0 MC1R 100.00 0 MEN1 99.83 0 MITF 100.00 0 MLH1 99.99 0 MLPH 100.00 0 MMP1 99.99 0 MMP2 99.93 0 MPDU1 100.00 0 MPLKIP 100.00 0 MSH2 100.00 0 MSH6 99.92 0 MSMO1 100.00 0 MSX1 99.53 0 MUTYH 100.00 0 MYO5A 99.78 0 NF1 98.85 0 NF2 99.97 0 NFKBIA 99.97 0 NGF 100.00 0 NHP2 100.00 0 NIPAL4 100.00 0 NIPBL 99.62 0 RMRP 100.00 0 NOP10 100.00 0 NOTCH1 98.81 0 NRAS 100.00 0 NSDHL 100.00 0 NTRK1 98.91 0 OCA2 99.73 0 OFD1 97.68 0 ORAI1 93.55 0 OSMR 100.00 0 PADI3 100.00 0 PARN 100.00 0 PAX3 100.00 0 PDGFRB 100.00 0 PEX7 96.12 0 PHYH 99.87 0 PIGL 100.00 0 PIK3CA 100.00 0 PKP1 100.00 0 PLCD1 99.74 0 PLEC 99.33 0 PLOD1 98.77 0 PLOD3 99.97 0 PMS2 98.83 0 PNPLA1 99.66 0 POFUT1 99.99 0 POGLUT1 100.00 0 POLD1 99.84 0 POLH 100.00 0 NT5C3A 100.00 0 PORCN 99.13 0 PPP1CB 100.00 0 PRDM12 83.27 0 PRDM5 100.00 0 PRKAR1A 100.00 0 PRKD1 97.12 0 PSAT1 99.73 0 PSENEN 100.00 0 PTCH1 99.03 0 PTCH2 100.00 0 PTDSS1 100.00 0 PTEN 99.64 0 PTPN11 94.81 0 NECTIN1 99.68 0 NECTIN4 99.41 0 PYCR1 100.00 0 RAB27A 100.00 0 RAD21 100.00 0 RAF1 100.00 0 RASA2 99.74 0 RBPJ 99.69 0 RECQL4 96.90 0 RET 96.88 0 RHBDF2 100.00 0 RIN2 100.00 0 RIPK4 99.98 0 RIT1 100.00 0 RNF113A 100.00 0 RPL21 84.30 0 RRAS 98.63 0 RSPO1 100.00 0 RTEL1 100.00 0 SASH1 99.88 0 SCN11A 99.99 0 SCN9A 99.99 0 SDHB 99.35 0 SDHD 99.95 0 SEC23B 100.00 0 SERPINB7 100.00 0 SERPINB8 100.00 0 SERPING1 97.68 0 SETBP1 100.00 0 SGPL1 100.00 0 SHOC2 100.00 0 HHAT 93.18 0 SKIC2 100.00 0 SLC24A5 100.00 0 SLC27A4 99.97 0 SLC29A3 95.73 0 SLC2A10 97.06 0 SLC39A13 100.00 0 SLC39A4 100.00 0 SLC45A2 100.00 0 SLC6A19 99.99 0 SLURP1 100.00 0 SMAD3 100.00 0 SMARCAD1 99.97 0 SMARCB1 100.00 0 SMC3 100.00 0 SMPD1 100.00 0 SNAI2 100.00 0 SNAP29 100.00 0 SNRPE 99.04 0 SOS1 100.00 0 SOS2 99.97 0 SOX10 97.31 0 SPINK5 100.00 0 SPRED1 100.00 0 SPRY1 100.00 0 SPTLC1 99.44 0 SRD5A3 98.97 0 ST14 99.95 0 STK11 99.81 0 STS 99.94 0 SUFU 100.00 0 SULT2B1 100.00 0 SUMF1 100.00 0 TAT 100.00 0 TCHH 100.00 0 TERT 93.51 0 TFR2 100.00 0 TGFB2 99.97 0 TGFB3 100.00 0 TGFBR1 91.97 0 TGFBR2 100.00 0 TGM1 100.00 0 TGM3 100.00 0 TGM5 100.00 0 TINF2 99.96 0 TMC6 99.87 0 TNXB 100.00 0 TP63 100.00 0 TRPS1 100.00 0 TRPV3 99.99 0 TSC1 100.00 0 TSC2 99.99 0 SKIC3 99.99 0 TUBB 100.00 0 TWIST2 99.15 0 TYR 100.00 0 TYRP1 100.00 0 UBR1 100.00 0 USB1 100.00 0 UVSSA 100.00 0 VPS33B 100.00 0 WDR19 100.00 0 WDR35 100.00 0 WNK1 100.00 0 WNT10A 94.15 0 WRAP53 100.00 0 WRN 100.00 0 XPA 97.89 0 XPC 100.00 0 ZMPSTE24 100.00 0 ZNF469 99.97 0 ZNF750 100.00 0 TERC 100.00 0 t