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  2. Movement Disorders (gene panel)

Movement Disorders (gene panel)

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Genetic test Export to PDF
Full name:
Movement Disorders (gene panel)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
DNA
Method category:
Sequence analysis: entire coding region
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centre de Génétique Humaine - CHU Sart-Tilman
RIZIV code:
565493-565504
EQA:
  • 2023 Rare neurological disorders EMQN
Turnaround time (maximum):
6 months
Document(s):
Created:
13 Dec 2022 - 16:39
Changed:
05 Apr 2024 - 11:04
  • Movement Disorders - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 0
    ABAT 100.00 0
    ACTB 100.00 0
    ACTL6B 100.00 0
    ADAR 100.00 0
    ADCY5 94.82 0
    ADPRS 97.19 0
    AFG3L2 95.73 0
    AGTPBP1 97.48 0
    AIMP1 100.00 0
    ALDH5A1 91.82 0
    ALG13 99.52 0
    ALG6 100.00 0
    ALS2 100.00 0
    AMT 100.00 0
    ANO3 99.99 0
    AOPEP 98.17 0
    AP3D1 100.00 0
    AP4M1 100.00 0
    AP5Z1 100.00 0
    APTX 100.00 0
    ARG1 100.00 0
    ARHGEF9 100.00 0
    ARSA 100.00 0
    ARV1 100.00 0
    ARX 76.27 0
    ASAH1 100.00 0
    ASNS 100.00 0
    ASS1 100.00 0
    ATAD1 100.00 0
    ATCAY 100.00 0
    ATM 100.00 0
    ATN1 100.00 0
    ATP13A2 99.13 0
    ATP1A2 99.91 0
    ATP1A3 100.00 0
    ATP6AP2 98.93 0
    ATP7B 100.00 0
    ATP8A2 100.00 0
    ATXN2 97.08 0
    AUH 98.84 0
    BCAP31 100.00 0
    BCKDHA 100.00 0
    BCKDHB 100.00 0
    BCS1L 100.00 0
    BSCL2 100.00 0
    BTK 100.00 0
    C19ORF12 100.00 0
    C9ORF72 100.00 0
    CA8 100.00 0
    CACNA1A 100.00 0
    CACNA1B 95.99 0
    CACNA1E 99.97 0
    CACNA1G 100.00 0
    CACNB4 100.00 0
    CARS2 95.22 0
    CBS 100.00 0
    CDKL5 99.33 0
    CEP290 99.99 0
    CHCHD2 100.00 0
    CHMP2B 100.00 0
    CHRNA2 99.97 0
    CHRNA4 99.98 0
    CHRNB2 100.00 0
    CIZ1 99.96 0
    CLCN2 100.00 0
    CLCN3 100.00 0
    CLCN6 100.00 0
    CLPB 100.00 0
    CLTC 100.00 0
    CNTNAP1 100.00 0
    COASY 100.00 0
    COL6A3 100.00 0
    COQ8A 100.00 0
    COQ9 100.00 0
    COX10 100.00 0
    COX15 100.00 0
    COX20 100.00 0
    CP 99.98 0
    CRAT 100.00 0
    CRH 100.00 0
    CRLF1 89.13 0
    CSF1R 100.00 0
    CSTB 100.00 0
    CTC1 100.00 0
    CTDP1 90.20 0
    CTNNB1 100.00 0
    CTSA 100.00 0
    CTSD 100.00 0
    CTSF 89.18 0
    CUL4B 98.64 0
    CWF19L1 100.00 0
    CYB5R3 95.77 0
    CYFIP2 100.00 0
    CYP27A1 99.38 0
    DARS1 100.00 0
    DBT 100.00 0
    DCAF17 99.11 0
    DCC 100.00 0
    DCTN1 100.00 0
    DDC 100.00 0
    DEGS1 100.00 0
    DEPDC5 100.00 0
    DHDDS 100.00 0
    DHX30 100.00 0
    DLAT 100.00 0
    DLD 100.00 0
    DMXL2 99.99 0
    DNAJB2 100.00 0
    DNAJC12 100.00 0
    DNAJC13 100.00 0
    DNAJC19 100.00 0
    DNAJC5 100.00 0
    DNAJC6 100.00 0
    DNAL4 100.00 0
    DNM1L 100.00 0
    DNMT1 99.83 0
    EARS2 100.00 0
    ECHS1 100.00 0
    EEF1A2 98.47 0
    ELOVL4 100.00 0
    EPRS1 100.00 0
    ETHE1 100.00 0
    FA2H 92.84 0
    FARS2 100.00 0
    FASTKD2 100.00 0
    FBXL4 100.00 0
    FBXO7 100.00 0
    FGF14 100.00 0
    FITM2 100.00 0
    FOLR1 100.00 0
    FOXG1 87.63 0
    FOXRED1 100.00 0
    FRRS1L 87.33 0
    FTL 100.00 0
    FUCA1 99.67 0
    FUS 100.00 0
    FXN 96.07 0
    GABRA2 100.00 0
    GABRB2 100.00 0
    GALT 100.00 0
    GAMT 98.07 0
    GBA1 100.00 0
    GBE1 100.00 0
    GCDH 100.00 0
    GCH1 98.16 0
    GFAP 100.00 0
    GFM1 100.00 0
    GFM2 99.99 0
    GJC2 88.27 0
    GLB1 100.00 0
    GLDC 97.21 0
    GLRA1 100.00 0
    GLRB 100.00 0
    GM2A 100.00 0
    GNAL 100.00 0
    GNAO1 100.00 0
    GNB1 100.00 0
    GOSR2 100.00 0
    GPHN 100.00 0
    GPR88 77.04 0
    GRID2 100.00 0
    GRIN1 100.00 0
    GRIN2B 100.00 0
    GRN 100.00 0
    GSX2 100.00 0
    GTPBP2 99.48 0
    HECW2 100.00 0
    HEXA 100.00 0
    HEXB 99.87 0
    HIBCH 100.00 0
    HPRT1 97.15 0
    HSD17B10 100.00 0
    HTT 99.18 0
    IFIH1 100.00 0
    IREB2 100.00 0
    IRF2BPL 99.88 0
    IVD 100.00 0
    JAM2 100.00 0
    JPH3 100.00 0
    KCNA1 100.00 0
    KCNA2 100.00 0
    KCNA4 100.00 0
    KCNC3 78.67 0
    KCND3 100.00 0
    KCNMA1 100.00 0
    KCNQ2 100.00 0
    KCNT1 99.92 0
    KCTD17 95.63 0
    KCTD7 99.64 0
    KIF1C 100.00 0
    KIF5A 100.00 0
    KMT2B 96.75 0
    L2HGDH 100.00 0
    LIAS 100.00 0
    LIPT1 100.00 0
    LIPT2 92.08 0
    LMNB1 98.51 0
    LRPPRC 100.00 0
    LRRK2 100.00 0
    LYST 100.00 0
    MAPT 100.00 0
    MARS2 100.00 0
    MCEE 100.00 0
    MCOLN1 98.10 0
    MDH2 100.00 0
    MECP2 100.00 0
    MECR 100.00 0
    MED20 100.00 0
    MEF2C 100.00 0
    MFSD8 100.00 0
    MICU1 100.00 0
    MMAA 100.00 0
    MMAB 100.00 0
    MMADHC 100.00 0
    MMUT 100.00 0
    MPV17 100.00 0
    MRE11 100.00 0
    MRPS34 99.28 0
    MTHFR 100.00 0
    MTR 100.00 0
    MTRFR 100.00 0
    MTRR 100.00 0
    MYBPC1 100.00 0
    MYORG 100.00 0
    NALCN 100.00 0
    NAXD 100.00 0
    NDUFA1 100.00 0
    NDUFA10 99.52 0
    NDUFA12 100.00 0
    NDUFA2 100.00 0
    NDUFA9 100.00 0
    NDUFAF2 100.00 0
    NDUFAF4 100.00 0
    NDUFAF5 100.00 0
    NDUFAF6 95.34 0
    NDUFS1 100.00 0
    NDUFS3 100.00 0
    NDUFS4 100.00 0
    NDUFS7 100.00 0
    NDUFS8 100.00 0
    NDUFV1 100.00 0
    NEU1 100.00 0
    NGLY1 100.00 0
    NHLRC2 100.00 0
    NKX2-1 89.99 0
    NKX6-2 70.62 0
    NPC1 100.00 0
    NPC2 100.00 0
    NTN1 94.10 0
    NTNG2 91.87 0
    NUP62 100.00 0
    MED12 100.00 0
    OPA3 100.00 0
    PAH 100.00 0
    PANK2 95.70 0
    PARK7 100.00 0
    PODXL 96.85 0
    PCBD1 92.74 0
    PCCA 100.00 0
    PCCB 100.00 0
    PCDH12 100.00 0
    PCDH19 100.00 0
    PDE10A 100.00 0
    PDE2A 100.00 0
    PDE8B 97.56 0
    PDGFB 100.00 0
    PDGFRB 100.00 0
    PDHA1 100.00 0
    PDHB 100.00 0
    PDHX 100.00 0
    PDYN 100.00 0
    PEX16 100.00 0
    PGK1 100.00 0
    PIGP 100.00 0
    PINK1 91.10 0
    PLA2G6 100.00 0
    PLEKHG2 100.00 0
    PLP1 100.00 0
    PMM2 100.00 0
    PMPCB 100.00 0
    PNKD 100.00 0
    PNKP 100.00 0
    PNPLA8 100.00 0
    PNPT1 100.00 0
    POLG 100.00 0
    POLR1C 100.00 0
    POLR3A 100.00 0
    PPT1 100.00 0
    PRICKLE1 100.00 0
    PRKCG 100.00 0
    PRKN 100.00 0
    PRKRA 100.00 0
    PRNP 100.00 0
    PRRT2 100.00 0
    PTRHD1 100.00 0
    PTS 100.00 0
    PUM1 100.00 0
    PURA 88.25 0
    QDPR 99.38 0
    RAB11B 100.00 0
    RAB39B 100.00 0
    RAD51 100.00 0
    RELN 100.00 0
    REPS1 100.00 0
    RHOBTB2 100.00 0
    RNF216 100.00 0
    SACS 100.00 0
    SCARB2 100.00 0
    SCN11A 99.99 0
    SCN1A 100.00 0
    SCN2A 100.00 0
    SCN4A 100.00 0
    SCN8A 100.00 0
    SCP2 100.00 0
    SCYL1 100.00 0
    SDHA 98.70 0
    SDHAF1 96.31 0
    SDHD 100.00 0
    SEPSECS 100.00 0
    SERAC1 100.00 0
    SETD5 100.00 0
    SETX 100.00 0
    SGCE 100.00 0
    SLC16A2 100.00 0
    SLC18A2 100.00 0
    SLC19A3 99.96 0
    SLC1A3 100.00 0
    SLC20A2 100.00 0
    SLC25A19 100.00 0
    SLC25A42 99.96 0
    SLC2A1 100.00 0
    SLC30A10 100.00 0
    SLC30A9 100.00 0
    SLC39A14 99.95 0
    SLC39A8 99.72 0
    SLC44A1 97.36 0
    SLC6A1 100.00 0
    SLC6A3 100.00 0
    SLC6A5 100.00 0
    SLC6A8 96.54 0
    SLC9A6 97.84 0
    SMPD1 100.00 0
    SNCA 100.00 0
    SPG11 100.00 0
    SPOP 100.00 0
    SPR 97.94 0
    SPTBN2 100.00 0
    SQSTM1 95.44 0
    SRD5A3 98.74 0
    ST3GAL5 92.43 0
    STUB1 99.46 0
    STXBP1 100.00 0
    SUCLA2 100.00 0
    SUCLG1 99.97 0
    SUMF1 100.00 0
    SUOX 100.00 0
    SURF1 92.90 0
    SYNE1 100.00 0
    SYNJ1 100.00 0
    SYT1 100.00 0
    TACO1 99.96 0
    TAF1 100.00 0
    TANGO2 100.00 0
    TARDBP 100.00 0
    TBC1D24 100.00 0
    TBK1 100.00 0
    TBL1XR1 100.00 0
    TENM4 100.00 0
    TGM6 100.00 0
    TH 100.00 0
    THAP1 100.00 0
    TIMM8A 100.00 0
    TMEM240 100.00 0
    TOR1A 100.00 0
    TPI1 100.00 0
    TPK1 100.00 0
    TRAK1 100.00 0
    TRAPPC11 100.00 0
    TRAPPC12 100.00 0
    TREM2 100.00 0
    TRIT1 100.00 0
    TSC1 100.00 0
    TSC2 100.00 0
    TSEN2 100.00 0
    TSEN54 94.95 0
    TSFM 92.64 0
    TTPA 87.42 0
    TUBB4A 100.00 0
    TXN2 100.00 0
    TYROBP 100.00 0
    UBA5 100.00 0
    UBQLN2 99.91 0
    UBR4 99.78 0
    UBTF 100.00 0
    UFM1 100.00 0
    UGDH 100.00 0
    UNC13A 99.92 0
    UQCRQ 100.00 0
    VAC14 100.00 0
    VAMP1 100.00 0
    VAMP2 100.00 0
    VCP 98.45 0
    VPS13A 100.00 0
    VPS13C 100.00 0
    VPS13D 100.00 0
    VPS16 100.00 0
    VPS35 100.00 0
    VPS41 100.00 0
    VPS4A 100.00 0
    VWA3B 100.00 0
    WARS2 100.00 0
    WDR45 100.00 0
    WDR73 100.00 0
    WDR81 100.00 0
    WWOX 100.00 0
    XK 99.86 0
    XPA 99.77 0
    XPC 100.00 0
    XPR1 100.00 0
    YY1 100.00 0
    ZC4H2 100.00 0
    ZFYVE26 100.00 0
    ZNF142 100.00 0