Dermatogenetic panel, severe, rare and hereditary genodermatoses (gene panel - 394 genes)

Genetic test Export to PDF
Full name:	Dermatogenetic panel, severe, rare and hereditary genodermatoses (gene panel - 394 genes)
Test type:	Clinical
Test specialty:	Molecular Genetics
Test purpose:	Post-natal Diagnosis
Specimen:	Peripheral (whole) blood on EDTA
Method category:	Sequence analysis: entire coding region Whole Exome Sequencing (WES)
Method technique:	Next Generation Sequencing (NGS)
Laboratory:	Centre de Génétique Humaine - Erasme ULB
RIZIV code:	565493-565504
Turnaround time (maximum):	6 months
Document(s):	Demande-postnat_0723_V9_FR.pdf424.89 KB
Created:	22 Aug 2019 - 11:00
Changed:	17 Aug 2023 - 11:20
URL:	https://ulbgenetics.be/compendium-des-analyses/#GM61

Related Laboratories

Related Analytes

Related Gene Panels

Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB

Details

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