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Heart / Cardio disorders / Cardiopathy (gene panel)

Genetic test Export to PDF
Full name:
Heart / Cardio disorders / Cardiopathy (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
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centrum Medische Genetica - UZ Gent
RIZIV code:
565493-565504
EQA:
  • 2021 cardiac disorders GenQA (Genomics Quality Assessment)
Turnaround time (maximum):
6 months
Document(s):
Created:
30 Jul 2019 - 11:49
Changed:
16 Dec 2022 - 10:36
  • cardiopathy panel - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 99.92 1
    ACADVL 100.00 1
    ACTA2 99.99 1
    ACTC1 98.57 1
    ACTN2 99.99 1
    AGL 97.67 1
    AKAP10 99.85 1
    AKAP9 99.27 1
    ALG10 100.00 1
    ANK2 99.98 1
    ANKRD1 99.57 1
    ATP5F1E 100.00 1
    BAG3 100.00 1
    BRAF 99.78 1
    CACNA1C 100.00 1
    CACNA2D1 97.12 1
    CACNB2 99.93 1
    CALM1 99.86 1
    CALM2 99.62 1
    CALR3 99.91 1
    CASQ2 94.39 1
    CAV3 100.00 1
    CBL 99.95 1
    CFC1 21.93 1
    CITED2 100.00 1
    COA5 98.65 1
    CRELD1 99.99 1
    CRYAB 100.00 1
    CSRP3 100.00 1
    CTF1 100.00 1
    CTNNA1 99.98 1
    CTNNA3 99.96 1
    DCHS1 100.00 1
    DES 100.00 1
    DMD 99.76 1
    DMPK 99.93 1
    DNM1L 99.40 1
    DOLK 100.00 1
    DPP6 99.99 1
    DSC3 99.73 1
    DSG2 99.96 1
    DSP 100.00 1
    DTNA 100.00 1
    ELN 99.86 1
    EMD 99.93 1
    EYA4 99.96 1
    FBN1 99.85 1
    FBXO32 99.99 1
    CFH 99.97 1
    FHL2 100.00 1
    FKRP 100.00 1
    FKTN 99.94 1
    FLNC 99.99 1
    FOXRED1 100.00 1
    FXN 99.96 1
    GAA 100.00 1
    GATA4 99.99 1
    GATA5 100.00 1
    GATA6 99.90 1
    GATAD1 99.79 1
    GDF1 100.00 1
    GJA1 100.00 1
    GJA5 100.00 1
    GLA 99.90 1
    GLB1 100.00 1
    GPD1L 99.97 1
    GUSB 95.07 1
    HAND1 99.99 1
    HCN4 100.00 1
    HFE 100.00 1
    HRAS 100.00 1
    ILK 100.00 1
    JAG1 100.00 1
    JPH2 99.99 1
    JUP 99.94 1
    KCNA5 100.00 1
    KCND3 99.98 1
    KCNE1 87.07 1
    KCNE2 99.99 1
    KCNE3 100.00 1
    KCNE5 99.97 1
    KCNH2 99.99 1
    KCNJ2 100.00 1
    KCNJ5 99.99 1
    KCNJ8 100.00 1
    KCNQ1 100.00 1
    KRAS 99.13 1
    LAMA4 99.93 1
    LAMP2 98.95 1
    LDB3 99.91 1
    LMNA 99.96 1
    MAP2K1 99.98 1
    MAP2K2 99.99 1
    MED13L 99.99 1
    MIB1 99.91 1
    MRPL3 99.94 1
    MYBPC3 99.98 1
    MYH6 100.00 1
    MYH7 99.99 1
    MYL2 99.99 1
    MYL3 99.99 1
    MYLK2 100.00 1
    MYOM1 99.98 1
    MYOZ1 99.93 1
    MYOZ2 99.99 1
    MYPN 99.88 1
    NEBL 99.86 1
    NEXN 97.73 1
    NKX2-5 99.75 1
    NKX2-6 100.00 1
    NOS1AP 99.91 1
    NPPA 100.00 1
    NRAS 99.66 1
    PDLIM3 99.94 1
    PKP2 94.27 1
    PLN 99.97 1
    PRKAG2 99.96 1
    PSEN1 100.00 1
    PSEN2 99.97 1
    PTPN11 99.98 1
    RAF1 99.97 1
    RANGRF 100.00 1
    RBM20 99.99 1
    RYR2 99.94 1
    SCN1B 99.98 1
    SCN2B 100.00 1
    SCN3B 100.00 1
    SCN4B 100.00 1
    SCN5A 100.00 1
    SCO2 100.00 1
    SDHA 99.98 1
    SGCD 100.00 1
    SHOC2 99.96 1
    SLC25A3 99.79 1
    SLMAP 99.55 1
    SMAD3 99.99 1
    SNTA1 99.99 1
    SOD2 99.98 1
    SOS1 99.68 1
    SPRED1 99.99 1
    SYNE1 99.95 1
    SYNE2 99.95 1
    TAFAZZIN 99.98 1
    TBX1 99.95 1
    TBX20 99.99 1
    TCAP 100.00 1
    TGFB2 99.87 1
    TGFB3 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    TLL1 99.94 1
    TMEM43 99.96 1
    TMEM70 99.99 1
    TMPO 99.81 1
    TNNI3 100.00 1
    TNNT2 99.87 1
    TPM1 99.92 1
    TRDN 99.80 1
    TRIM63 99.96 1
    TRPM4 99.99 1
    TSFM 100.00 1
    TTN 99.15 1
    TTR 100.00 1
    TXNRD2 99.97 1
    VCL 99.76 1
    XK 99.98 1
    ZFPM2 100.00 1