1. Genetic tests
  2. Skin disorders (gene panel)

Skin disorders (gene panel)

Genetic test Export to PDF
Full name:
Skin disorders (gene panel)
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)
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centrum Medische Genetica - UZ Gent
RIZIV code:
565493-565504
Accreditation (ISO 15189):
2021-09-11 / 2026-09-10
Turnaround time (maximum):
6 months
Document(s):
Created:
01 Aug 2019 - 15:14
Changed:
16 Dec 2022 - 11:24
  • Skin disorders - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AAAS 99.88 1
    AAGAB 100.00 1
    ABCA12 99.94 1
    ABCB6 99.97 1
    ABHD5 99.98 1
    ADAM10 99.88 1
    ADAR 99.84 1
    ADGRE2 98.77 1
    ALDH3A2 99.95 1
    ALOX12B 100.00 1
    ALOXE3 99.98 1
    ALX4 100.00 1
    ANTXR1 99.83 1
    ANTXR2 99.67 1
    AP1S1 99.49 1
    AP3B1 99.89 1
    AP3D1 100.00 1
    APCDD1 99.99 1
    AQP5 99.88 1
    ARHGAP31 100.00 1
    ARSL 99.93 1
    ATP2A2 99.98 1
    ATP6V1B2 99.99 1
    ATP7A 99.87 1
    AXIN2 100.00 1
    BANF1 99.84 1
    BCS1L 99.99 1
    BLM 99.80 1
    BLOC1S3 100.00 1
    BLOC1S6 99.98 1
    BMS1 85.80 1
    BRAF 99.78 1
    C1QA 99.99 1
    C1QB 99.58 1
    C1QC 99.97 1
    C5 99.92 1
    CARD11 99.97 1
    CARD14 99.99 1
    CASP10 99.85 1
    CASP14 99.86 1
    CASP8 99.92 1
    CAST 99.94 1
    CBL 99.95 1
    CD151 100.00 1
    CDH1 99.98 1
    CDH3 99.98 1
    CDKN1B 100.00 1
    CDKN1C 100.00 1
    CDSN 99.94 1
    CERS3 99.85 1
    CHST8 100.00 1
    CHUK 99.83 1
    CLDN1 99.99 1
    CLDN10 99.97 1
    COG6 99.86 1
    COL17A1 99.98 1
    COL18A1 99.99 1
    COL7A1 99.99 1
    COX7B 99.86 1
    CYP11B1 100.00 1
    CSTB 99.99 1
    CSTA 99.83 1
    CTLA4 99.99 1
    CTSC 99.97 1
    CYLD 99.46 1
    CYP11A1 99.99 1
    CYP21A2 99.85 1
    CYP26C1 99.92 1
    CYP4F22 99.97 1
    DCAF17 99.84 1
    DCLRE1C 99.79 1
    DCPS 99.98 1
    DDB2 100.00 1
    DHCR24 99.93 1
    DIP2B 99.65 1
    DKC1 99.59 1
    DLL4 100.00 1
    DOCK6 100.00 1
    DOCK8 99.86 1
    DPH1 100.00 1
    DSC3 99.73 1
    DSG1 99.35 1
    DSG3 99.97 1
    DSG4 99.91 1
    DSP 100.00 1
    DST 99.52 1
    DSTYK 99.83 1
    DTNBP1 99.89 1
    GLB1 99.92 1
    EDA 99.44 1
    EDAR 99.89 1
    EDARADD 99.98 1
    EDN3 100.00 1
    EDNRA 99.97 1
    EDNRB 99.99 1
    ELOVL4 99.91 1
    ENPP1 99.88 1
    EOGT 99.09 1
    EPG5 99.95 1
    ERCC2 99.98 1
    ERCC3 99.90 1
    ERCC4 99.92 1
    ERCC5 99.99 1
    ERCC6 99.60 1
    ERCC8 99.79 1
    EVC 99.95 1
    EVC2 99.97 1
    EXPH5 99.81 1
    F12 99.99 1
    FAM111B 99.98 1
    FAS 99.99 1
    FASLG 99.84 1
    FECH 99.98 1
    FERMT1 99.90 1
    FGFR1 98.88 1
    FGFR3 100.00 1
    FOXN1 99.97 1
    FZD6 99.95 1
    GBA 96.92 1
    GINS1 99.99 1
    GJA1 100.00 1
    GJB2 100.00 1
    GJB3 99.99 1
    GJB4 100.00 1
    GJB6 100.00 1
    GPR143 99.60 1
    GREM2 100.00 1
    GRHL2 100.00 1
    GRIN2B 99.99 1
    GTF2E2 100.00 1
    GTF2H5 100.00 1
    HCCS 99.90 1
    HOXC13 99.98 1
    HPGD 99.98 1
    HPS1 100.00 1
    HPS3 99.91 1
    HPS4 99.98 1
    HPS5 99.91 1
    HPS6 100.00 1
    HR 99.95 1
    HRAS 100.00 1
    HSPA9 99.96 1
    IFT122 99.98 1
    IFT43 99.97 1
    IKBKG 57.34 1
    IL2RA 99.99 1
    IL31RA 100.00 1
    ITGA3 99.86 1
    ITGA6 99.78 1
    ITGB4 99.99 1
    ITPR2 99.13 1
    JUP 99.94 1
    KCNH1 99.92 1
    KCTD1 99.99 1
    KDF1 99.86 1
    KDSR 99.99 1
    KEAP1 100.00 1
    KIT 99.86 1
    KITLG 99.46 1
    KLHL24 99.90 1
    KRAS 99.13 1
    KREMEN1 99.88 1
    KRT1 99.89 1
    KRT10 100.00 1
    KRT13 99.98 1
    KRT14 99.99 1
    KRT16 100.00 1
    KRT17 100.00 1
    KRT2 99.88 1
    KRT3 99.89 1
    KRT5 99.98 1
    KRT6A 100.00 1
    KRT6B 99.95 1
    KRT6C 96.59 1
    KRT7 99.87 1
    KRT74 99.92 1
    KRT83 100.00 1
    KRT85 99.97 1
    KRT9 100.00 1
    LAMA4 99.90 1
    LAMB3 99.99 1
    LAMC2 99.54 1
    LBR 99.66 1
    LIPH 99.99 1
    LIPN 99.94 1
    LMNA 99.96 1
    LMNB2 99.99 1
    LORICRIN 100.00 1
    LPAR6 99.99 1
    LRMDA 99.87 1
    LRP1 99.94 1
    LYST 99.87 1
    LZTR1 99.46 1
    MBTPS2 99.81 1
    MC1R 100.00 1
    MC2R 100.00 1
    MC4R 100.00 1
    MCM4 99.96 1
    MEN1 99.98 1
    MITF 99.98 1
    MLPH 100.00 1
    MMP1 99.99 1
    MPDU1 99.97 1
    MPLKIP 99.99 1
    MSX1 100.00 1
    MYO5A 99.94 1
    NECTIN1 99.99 1
    NECTIN4 99.97 1
    NF1 99.88 1
    NFKBIA 99.99 1
    NIPAL4 100.00 1
    NLRC4 99.95 1
    NLRP1 95.26 1
    NLRP12 99.99 1
    NLRP3 100.00 1
    NNT 99.87 1
    NOP10 99.99 1
    NOTCH1 99.98 1
    NR5A1 99.92 1
    NRAS 99.66 1
    NSDHL 99.87 1
    OCA2 99.60 1
    OSMR 99.95 1
    PADI3 99.35 1
    PAX3 100.00 1
    PAX6 99.95 1
    PDGFRB 99.99 1
    PEPD 99.98 1
    PEX7 99.72 1
    PGM3 99.94 1
    PHGDH 99.79 1
    PHYH 100.00 1
    PIEZO1 99.98 1
    PIGL 99.98 1
    PIGT 99.95 1
    PKP1 99.98 1
    PLCD1 99.98 1
    PLCG2 99.99 1
    PLEC 100.00 1
    PMVK 99.60 1
    PNPLA1 99.98 1
    PNPLA2 100.00 1
    PNPLA6 99.99 1
    POFUT1 100.00 1
    POGLUT1 99.99 1
    POLA1 99.57 1
    POLH 99.85 1
    POMC 99.99 1
    NT5C3A 99.95 1
    PORCN 99.93 1
    HCRT 99.85 1
    PRKCD 99.96 1
    PRKD1 99.96 1
    PSAT1 99.98 1
    PSENEN 100.00 1
    PSMB8 99.96 1
    PTCH1 99.99 1
    PTEN 99.89 1
    PTPN11 99.98 1
    PTPRF 99.92 1
    RAB27A 99.94 1
    RAD50 99.75 1
    RAF1 99.97 1
    RAG1 100.00 1
    RAG2 100.00 1
    RBM28 99.99 1
    RBPJ 99.96 1
    RECQL4 100.00 1
    RET 99.97 1
    RHBDF2 99.95 1
    RIN2 99.99 1
    RIT1 99.78 1
    RMRP 100.00 1
    RSPO1 99.99 1
    SCN9A 99.83 1
    SDR9C7 99.99 1
    SERPINB7 99.93 1
    SERPINB8 99.98 1
    SERPING1 100.00 1
    SGPL1 99.95 1
    SHOC2 99.96 1
    SLC24A5 99.99 1
    SLC27A4 100.00 1
    SLC29A3 99.98 1
    SLC39A4 100.00 1
    SLC45A2 100.00 1
    SLURP1 100.00 1
    SMARCA2 99.95 1
    SMARCAD1 99.86 1
    SNAI2 100.00 1
    SNAP29 99.85 1
    SNRPE 99.26 1
    SOS1 99.68 1
    SOS2 99.39 1
    SOX10 100.00 1
    SOX18 100.00 1
    SPINK5 99.91 1
    SPINT1 100.00 1
    SPRED1 99.99 1
    SRD5A3 99.94 1
    ST14 100.00 1
    ST3GAL5 99.96 1
    STAT3 99.97 1
    STIM1 99.99 1
    STK11 100.00 1
    STS 99.81 1
    SULT2B1 99.92 1
    SUMF1 99.95 1
    TAT 99.99 1
    TCHH 99.94 1
    TERC 98.59 1
    TGM1 99.82 1
    TGM3 100.00 1
    TGM5 100.00 1
    TINF2 100.00 1
    TP63 99.97 1
    TRPM1 99.96 1
    TRPS1 100.00 1
    TRPV3 99.90 1
    TWIST2 100.00 1
    TXNRD2 99.97 1
    TYRP1 99.97 1
    UBR1 99.93 1
    UROD 99.32 1
    UROS 100.00 1
    USB1 89.62 1
    VCX 96.04 1
    VCX3A 85.19 1
    WDR19 99.80 1
    WDR35 99.92 1
    WNT10A 100.00 1
    XPA 99.68 1
    XPC 99.98 1
    ZMPSTE24 98.70 1