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  2. Cardiomyopathy, hereditary (gene panel)

Cardiomyopathy, hereditary (gene panel)

Genetic test Export to PDF
Full name:
Cardiomyopathy, hereditary (gene panel)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Pre-implantation genetic diagnosis,
Predictive and Pre-symptomatic diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Frozen tissue,
Fresh tissue,
Chorionic villi,
Amniotic fluid,
Cell culture
Method category:
Sequence analysis: entire coding region
Mutation screening and sequence analysis of selected exons
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centrum Medische Genetica - UZ Brussel VUB
RIZIV code:
565493-565504
EQA:
  • 2017 Arrhythmia & Cardiomyopathies GenQA (Genomics Quality Assessment)
  • 2018 Arrhythmia & Cardiomyopathies GenQA (Genomics Quality Assessment)
  • 2020 cardiac disorders GenQA (Genomics Quality Assessment)
  • 2022 cardiac disorders GenQA (Genomics Quality Assessment)
Accreditation (ISO 15189):
2021-10-07 / 2026-06-14
Turnaround time (maximum):
6 months
Document(s):
Created:
23 Aug 2019 - 17:07
Changed:
01 Mar 2023 - 16:31
URL:
https://laboguide.uzbrussel.be/laboguide#Analyses:Cardiomyopathie&&&&&2790&COLL…
  • Cardiomyopathy, hereditary (208 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 100.00 0 No comment
    ACAD9 100.00 0 No comment
    ACADVL 98.89 0 No comment
    ACE 97.11 0 No comment
    ACTA1 100.00 0 No comment
    ACTC1 100.00 0 No comment
    ACTN2 100.00 0 No comment
    ADD3 100.00 0 No comment
    ADRB2 100.00 0 No comment
    AGXT 100.00 0 No comment
    AGTR1 100.00 0 No comment
    AKAP9 100.00 0 No comment
    ALPK3 98.02 0 No comment
    ANKRD1 100.00 0 No comment
    APOA1 99.97 0 No comment
    B2M 100.00 0 No comment
    BAG3 100.00 0 No comment
    BRAF 96.97 0 No comment
    CACNA1C 100.00 0 No comment
    CACNB2 100.00 0 No comment
    CALM1 100.00 0 No comment
    CALM2 100.00 0 No comment
    CALM3 99.99 0 No comment
    CALR3 100.00 0 No comment
    CASQ2 100.00 0 No comment
    CASZ1 95.56 0 No comment
    CAV3 100.00 0 No comment
    CAVIN4 100.00 0 No comment
    CBL 100.00 0 No comment
    CDH2 97.48 0 No comment
    CHRM2 100.00 0 No comment
    CMYA5 99.99 0 No comment
    CNBP 100.00 0 No comment
    COA5 100.00 0 No comment
    COA6 100.00 0 No comment
    COX10 100.00 0 No comment
    COX15 100.00 0 No comment
    CRYAB 100.00 0 No comment
    CSRP3 100.00 0 No comment
    CTF1 30.96 0 No comment
    CTNNA3 100.00 0 No comment
    DES 100.00 0 No comment
    DLG1 100.00 0 No comment
    DMD 100.00 0 No comment
    DNAJC19 100.00 0 No comment
    DNM1L 100.00 0 No comment
    DOLK 100.00 0 No comment
    DSC3 98.44 0 No comment
    DSG2 99.61 0 No comment
    DSP 100.00 0 No comment
    DTNA 100.00 0 No comment
    ECRG4 99.32 0 No comment
    ELAC2 99.99 0 No comment
    ELN 100.00 0 No comment
    EMD 99.84 0 No comment
    EYA4 100.00 0 No comment
    FBXO32 100.00 0 No comment
    CFH 100.00 0 No comment
    FHL2 100.00 0 No comment
    FHOD3 100.00 0 No comment
    FKRP 98.68 0 No comment
    FKTN 100.00 0 No comment
    FLNC 100.00 0 No comment
    FLT1 99.53 0 No comment
    FOXD4 100.00 0 No comment
    FXN 89.89 0 No comment
    GAA 100.00 0 No comment
    GATA4 80.69 0 No comment
    GATA5 97.28 0 No comment
    GATA6 81.11 0 No comment
    GATAD1 88.18 0 No comment
    GLA 100.00 0 No comment
    GTPBP3 100.00 0 No comment
    HACD1 95.46 0 No comment
    HADHB 100.00 0 No comment
    HAND1 100.00 0 No comment
    HCN4 92.35 0 No comment
    HIF1A 100.00 0 No comment
    HRAS 100.00 0 No comment
    HSPB6 99.65 0 No comment
    HSPB7 100.00 0 No comment
    ILK 100.00 0 No comment
    INS-IGF2 99.94 0 No comment
    ISL1 100.00 0 No comment
    JPH2 95.10 0 No comment
    JUP 100.00 0 No comment
    KARS1 100.00 0 No comment
    KAT2B 94.80 0 No comment
    KCND2 100.00 0 No comment
    KCNE1 100.00 0 No comment
    KCNH2 94.44 0 No comment
    KCNJ12 100.00 0 No comment
    KCNQ1 91.07 0 No comment
    KIF20A 100.00 0 No comment
    KLF10 100.00 0 No comment
    LAMA2 100.00 0 No comment
    LAMA4 100.00 0 No comment
    LAMP2 100.00 0 No comment
    LDB3 100.00 0 No comment
    LMNA 99.93 0 No comment
    LRRC10 100.00 0 No comment
    MAP2K1 100.00 0 No comment
    MAP2K2 99.98 0 No comment
    MIB1 100.00 0 No comment
    MIB2 99.31 0 No comment
    MRPL3 100.00 0 No comment
    MRPL44 100.00 0 No comment
    MTO1 95.75 0 No comment
    MYBPC3 100.00 0 No comment
    MYH15 100.00 0 No comment
    MYH6 100.00 0 No comment
    MYH7 100.00 0 No comment
    MYH7B 99.96 0 No comment
    MYL2 100.00 0 No comment
    MYL3 100.00 0 No comment
    MYLK2 100.00 0 No comment
    MYO6 100.00 0 No comment
    MYOM1 100.00 0 No comment
    MYOM3 100.00 0 No comment
    MYOZ1 100.00 0 No comment
    MYOZ2 100.00 0 No comment
    MYPN 100.00 0 No comment
    NAA10 96.03 0 No comment
    NCOA6 100.00 0 No comment
    NDUFAF1 100.00 0 No comment
    NDUFV2 100.00 0 No comment
    NEB 99.99 0 No comment
    NEBL 100.00 0 No comment
    NEXN 100.00 0 No comment
    NKX2-5 100.00 0 No comment
    NPPA 100.00 0 No comment
    NRAP 100.00 0 No comment
    OBSCN 99.26 0 No comment
    OBSL1 98.31 0 No comment
    MED12 100.00 0 No comment
    PDLIM3 100.00 0 No comment
    PKP2 99.87 0 No comment
    PLEC 99.82 0 No comment
    PLEKHM2 99.60 0 No comment
    PLN 100.00 0 No comment
    PPCS 100.00 0 No comment
    PRDM16 100.00 0 No comment
    PRKAG2 95.88 0 No comment
    PRNP 100.00 0 No comment
    PSEN1 100.00 0 No comment
    PSEN2 100.00 0 No comment
    PTEN 98.86 0 No comment
    PTPN11 98.80 0 No comment
    RAF1 100.00 0 No comment
    RANGRF 100.00 0 No comment
    RBM20 99.82 0 No comment
    RIT1 100.00 0 No comment
    RPSA 97.87 0 No comment
    RRAGC 99.99 0 No comment
    RTKN2 100.00 0 No comment
    RYR2 100.00 0 No comment
    S100A1 100.00 0 No comment
    SCN4B 100.00 0 No comment
    SCN5A 100.00 0 No comment
    SDHA 98.02 0 No comment
    SGCB 94.58 0 No comment
    SGCD 100.00 0 No comment
    SGCG 100.00 0 No comment
    SGK1 99.99 0 No comment
    SHOC2 100.00 0 No comment
    SLC12A1 100.00 0 No comment
    SLC22A5 100.00 0 No comment
    SLC25A3 100.00 0 No comment
    SLC25A4 99.09 0 No comment
    SMC1A 100.00 0 No comment
    SNTA1 84.25 0 No comment
    SOD2 100.00 0 No comment
    SOS1 100.00 0 No comment
    SYNE1 100.00 0 No comment
    SYNE2 100.00 0 No comment
    SYNM 92.59 0 No comment
    TAF1A 100.00 0 No comment
    TAX1BP3 100.00 0 No comment
    WWTR1 99.81 0 No comment
    TBX20 100.00 0 No comment
    TBX5 100.00 0 No comment
    TCAP 100.00 0 No comment
    TCF21 100.00 0 No comment
    TGFB3 100.00 0 No comment
    TJP1 99.14 0 No comment
    TK2 95.90 0 No comment
    TMED4 100.00 0 No comment
    TMEM43 100.00 0 No comment
    TMEM87B 99.37 0 No comment
    TMPO 99.87 0 No comment
    TNNI3 100.00 0 No comment
    TNNI3K 100.00 0 No comment
    TNNT2 100.00 0 No comment
    TNNT3 100.00 0 No comment
    TPM1 99.98 0 No comment
    TRIM54 99.66 0 No comment
    TRIM55 100.00 0 No comment
    TRIM63 100.00 0 No comment
    TRPM4 100.00 0 No comment
    TSFM 93.22 0 No comment
    TTN 100.00 0 No comment
    TTR 100.00 0 No comment
    TXNRD2 96.90 0 No comment
    VCL 100.00 0 No comment
    VEGFA 98.73 0 No comment
    YWHAE 98.69 0 No comment
    ZBTB17 100.00 0 No comment