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Ichthyosis (gene panel)

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Genetic test Export to PDF
Full name:
Ichthyosis (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
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centrum Menselijke Erfelijkheid - KUL
RIZIV code:
565493-565504
Turnaround time (maximum):
4 - 6 months
Document(s):
Created:
19 Jul 2019 - 16:01
Changed:
19 Sep 2022 - 10:16
URL:
https://laboboeken.nexuzhealth.com/pboek/internet/GHB%20CME/14372
  • Ichthyosis and erythroderma (95 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA12 95.00 0 NM_173076.2/ interpretable range CS1>95%
    ABHD5 95.00 0 NM_016006.4/ interpretable range CS1>95%
    ADAM17 95.00 0 NM_003183.4/ interpretable range CS1>95%
    ALDH3A2 95.00 0 NM_000382.2/ interpretable range CS1>95%
    ALOX12B 95.00 0 NM_001139.2/ interpretable range CS1>95%
    ALOXE3 95.00 0 NM_021628.2/ interpretable range CS1>95%
    AP1B1 95.00 0 NM_001127.3/ interpretable range CS1>95%
    AP1S1 95.00 0 NM_001283.3/ interpretable range CS1>95%
    ASPRV1 95.00 0 NM_152792.2/ interpretable range CS1>95%
    ASS1 95.00 0 NM_000050.4/ interpretable range CS1>95%
    ATP7A 95.00 0 NM_000052.6/ interpretable range CS1>95%
    BCKDHA 95.00 0 NM_000709.3/ interpretable range CS1>95%
    BCKDHB 95.00 0 NM_183050.2/ interpretable range CS1>95%
    BTD 95.00 0 NM_000060.3/ interpretable range CS1>95%
    BTK 95.00 0 NM_000061.2/ interpretable range CS1>95%
    CAPN12 95.00 0 NM_144691.3/ interpretable range CS1>95%
    CARD14 95.00 0 NM_024110.4/ interpretable range CS1>95%
    CASP14 95.00 0 NM_012114.2/ interpretable range CS1>95%
    CAST 95.00 0 NM_001042440.4/ interpretable range CS1>95%
    CDSN 95.00 0 NM_001264.4/ interpretable range CS1>95%
    CERS3 95.00 0 NM_178842.3/ interpretable range CS1>95%
    CHST8 95.00 0 NM_001127896.1/ interpretable range CS1>95%
    CLDN1 95.00 0 NM_021101.4/ interpretable range CS1>95%
    CYP21A2 95.00 0 NM_001875.4/ interpretable range CS1>95%
    CSTA 95.00 0 NM_005213.3/ interpretable range CS1>95%
    CTSB 95.00 0 NM_001908.4/ interpretable range CS1>95%
    CYP4F22 95.00 0 NM_173483.3/ interpretable range CS1>95%
    DBT 95.00 0 NM_001918.3/ interpretable range CS1>95%
    DCLRE1C 95.00 0 NM_001033855.2/ interpretable range CS1>95%
    DLD 95.00 0 NM_000108.4/ interpretable range CS1>95%
    DSG1 95.00 0 NM_001942.2/ interpretable range CS1>95%
    GLB1 95.00 0 NM_006579.2/ interpretable range CS1>95%
    ELOVL1 95.00 0 NM_001256399.1/ interpretable range CS1>95%
    ELOVL4 95.00 0 NM_022726.3/ interpretable range CS1>95%
    ERCC2 95.00 0 NM_000400.3/ interpretable range CS1>95%
    ERCC3 95.00 0 NM_000122.1/ interpretable range CS1>95%
    FGFR1 95.00 0 NM_002016.1/ interpretable range CS1>95%
    FLG2 95.00 0 NM_001014342.2/ interpretable range CS1>95%
    GBA 95.00 0 NM_001005741.2/ interpretable range CS1>95%
    GJA1 95.00 0 NM_000165.4/ interpretable range CS1>95%
    GJB2 95.00 0 NM_004004.5/ interpretable range CS1>95%
    GJB3 95.00 0 NM_024009.2/ interpretable range CS1>95%
    GJB4 95.00 0 NM_153212.2/ interpretable range CS1>95%
    GJB6 95.00 0 NM_006783.4/ interpretable range CS1>95%
    GTF2E2 95.00 0 NM_002095.4/ interpretable range CS1>95%
    GTF2H5 95.00 0 NM_207118.2/ interpretable range CS1>95%
    HLCS 95.00 0 NM_000411.6/ interpretable range CS1>95%
    IL36RN 95.00 0 NM_012275.2/ interpretable range CS1>95%
    KDSR 95.00 0 NM_002035.2/ interpretable range CS1>95%
    KIT 95.00 0 NM_000222.2/ interpretable range CS1>95%
    KRT1 95.00 0 NM_006121.3/ interpretable range CS1>95%
    KRT10 95.00 0 NM_000421.3/ interpretable range CS1>95%
    KRT14 95.00 0 NM_000526.4/ interpretable range CS1>95%
    KRT16 95.00 0 NM_005557.3/ interpretable range CS1>95%
    KRT2 95.00 0 NM_000423.2/ interpretable range CS1>95%
    KRT5 95.00 0 NM_000424.3/ interpretable range CS1>95%
    KRT6C 95.00 0 NM_173086.4/ interpretable range CS1>95%
    KRT83 95.00 0 NM_002282.3/ interpretable range CS1>95%
    KRT9 95.00 0 NM_000226.3/ interpretable range CS1>95%
    LIPN 95.00 0 NM_001102469.1/ interpretable range CS1>95%
    LORICRIN 95.00 0 NM_000427.2/ interpretable range CS1>95%
    MBTPS2 95.00 0 NM_015884.3/ interpretable range CS1>95%
    MPLKIP 95.00 0 NM_138701.3/ interpretable range CS1>95%
    MMUT 95.00 0 NM_000255.3/ interpretable range CS1>95%
    NIPAL4 95.00 0 NM_001099287.1/ interpretable range CS1>95%
    NSDHL 95.00 0 NM_015922.2/ interpretable range CS1>95%
    PCCA 95.00 0 NM_000282.3/ interpretable range CS1>95%
    PCCB 95.00 0 NM_000532.4/ interpretable range CS1>95%
    PEX7 95.00 0 NM_000288.3/ interpretable range CS1>95%
    PHYH 95.00 0 NM_006214.3/ interpretable range CS1>95%
    PIGL 95.00 0 NM_004278.4/ interpretable range CS1>95%
    PNPLA1 95.00 0 NM_001145717.1/ interpretable range CS1>95%
    NT5C3A 95.00 0 NM_015932.5/ interpretable range CS1>95%
    RAG1 95.00 0 NM_000448.2/ interpretable range CS1>95%
    RAG2 95.00 0 NM_000536.3/ interpretable range CS1>95%
    RNF113A 95.00 0 NM_006978.2/ interpretable range CS1>95%
    SDR9C7 95.00 0 NM_148897.2/ interpretable range CS1>95%
    SERPINB8 95.00 0 NM_198833.1/ interpretable range CS1>95%
    SGPL1 95.00 0 NM_003901.3/ interpretable range CS1>95%
    SLC25A13 95.00 0 NM_014251.2/ interpretable range CS1>95%
    SLC27A4 95.00 0 NM_005094.3/ interpretable range CS1>95%
    SLC30A2 95.00 0 NM_001004434.1/ interpretable range CS1>95%
    SLC39A4 95.00 0 NM_130849.3/ interpretable range CS1>95%
    SNAP29 95.00 0 NM_004782.3/ interpretable range CS1>95%
    SPINK5 95.00 0 NM_006846.3/ interpretable range CS1>95%
    SREBF1 95.00 0 NM_004176.4/ interpretable range CS1>95%
    ST14 95.00 0 NM_021978.3/ interpretable range CS1>95%
    STS 95.00 0 NM_000351.4/ interpretable range CS1>95%
    SULT2B1 95.00 0 NM_177973.1/ interpretable range CS1>95%
    SUMF1 95.00 0 NM_182760.3/ interpretable range CS1>95%
    TBX1 95.00 0 NM_080647.1/ interpretable range CS1>95%
    TGM1 95.00 0 NM_000359.2/ interpretable range CS1>95%
    TGM5 95.00 0 NM_201631.3/ interpretable range CS1>95%
    VIPAS39 95.00 0 NM_022067.3/ interpretable range CS1>95%
    VPS33B 95.00 0 NM_018668.4/ interpretable range CS1>95%