1. Genetic tests
  2. Ataxia (autosomic dominant and recessive / except expansion of triplets) (gene panel - 722 genes)

Ataxia (autosomic dominant and recessive / except expansion of triplets) (gene panel - 722 genes)

Genetic test Export to PDF
Full name:
Ataxia (autosomic dominant and recessive / except expansion of triplets) (gene panel - 722 genes)
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)
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centre de Génétique Humaine - Erasme ULB
RIZIV code:
565493-565504
EQA:
  • 2023 Ataxia and spastic paraplegias GenQA (Genomics Quality Assessment)
Accreditation (ISO 15189):
2021-03-25 / 2024-09-09
Turnaround time (maximum):
6 months
Document(s):
Created:
22 Aug 2019 - 09:23
Changed:
19 Jan 2024 - 09:06
URL:
https://ulbgenetics.be/compendium-des-analyses/#GM08
  • Ataxia (348 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AAAS 100.00 0 No comment
    ABCB7 99.99 0 No comment
    ABCD1 97.56 0 No comment
    ABHD12 88.30 0 No comment
    ABHD5 99.85 0 No comment
    ACADVL 98.04 0 No comment
    ACO2 100.00 0 No comment
    COQ8A 99.92 0 No comment
    AFG3L2 94.80 0 No comment
    AHI1 100.00 0 No comment
    ALAS2 100.00 0 No comment
    ALDH18A1 100.00 0 No comment
    ALDH5A1 84.13 0 No comment
    ALG6 100.00 0 No comment
    ALS2 100.00 0 No comment
    AMACR 96.78 0 No comment
    AMPD2 99.90 0 No comment
    AMT 100.00 0 No comment
    ANO10 100.00 0 No comment
    AP1S2 100.00 0 No comment
    APTX 99.96 0 No comment
    ARL13B 99.98 0 No comment
    ARL6 100.00 0 No comment
    ARSA 100.00 0 No comment
    ARX 100.00 0 No comment
    ASPA 100.00 0 No comment
    ATCAY 100.00 0 No comment
    ATG5 100.00 0 No comment
    ATL1 99.89 0 No comment
    ATM 100.00 0 No comment
    ATP1A3 100.00 0 No comment
    ATP2B2 100.00 0 No comment
    ATP2B3 99.89 0 No comment
    ATP7B 100.00 0 No comment
    ATP8A2 99.91 0 No comment
    ATXN1 100.00 0 No comment
    ATXN10 98.19 0 No comment
    ATXN2 93.25 0 No comment
    ATXN3 99.47 0 No comment
    ATXN7 98.67 0 No comment
    B9D1 99.89 0 No comment
    BBS1 100.00 0 No comment
    BBS10 100.00 0 No comment
    BBS12 100.00 0 No comment
    BBS2 100.00 0 No comment
    BBS4 99.97 0 No comment
    BBS5 100.00 0 No comment
    BBS7 99.99 0 No comment
    BBS9 99.93 0 No comment
    BEAN1 100.00 0 No comment
    BIVM 100.00 0 No comment
    BSCL2 100.00 0 No comment
    BTD 100.00 0 No comment
    TWNK 100.00 0 No comment
    MTRFR 100.00 0 No comment
    C19ORF12 100.00 0 No comment
    CPLANE1 100.00 0 No comment
    CA8 100.00 0 No comment
    CACNA1A 99.53 0 No comment
    CACNA1G 99.97 0 No comment
    CACNB4 99.95 0 No comment
    CAMTA1 99.98 0 No comment
    CAPN1 99.97 0 No comment
    CASK 99.99 0 No comment
    CC2D2A 100.00 0 No comment
    CCDC88C 99.64 0 No comment
    CEP290 100.00 0 No comment
    CEP41 100.00 0 No comment
    CHMP1A 100.00 0 No comment
    CLCN2 100.00 0 No comment
    CLN5 98.80 0 No comment
    CLN6 90.40 0 No comment
    CLPP 97.95 0 No comment
    COA7 100.00 0 No comment
    COASY 100.00 0 No comment
    COG5 99.95 0 No comment
    COQ2 99.66 0 No comment
    COQ6 100.00 0 No comment
    COQ9 100.00 0 No comment
    COX20 95.39 0 No comment
    CP 100.00 0 No comment
    CRAT 99.29 0 No comment
    CSTB 98.75 0 No comment
    CWF19L1 100.00 0 No comment
    CYP27A1 99.38 0 No comment
    CYP2U1 93.20 0 No comment
    CYP7B1 95.41 0 No comment
    DARS1 100.00 0 No comment
    DARS2 100.00 0 No comment
    DDB2 100.00 0 No comment
    DDHD2 100.00 0 No comment
    DLAT 100.00 0 No comment
    DMXL2 100.00 0 No comment
    DNAJC19 99.65 0 No comment
    DNAJC3 99.99 0 No comment
    DNAJC5 100.00 0 No comment
    DNMT1 99.54 0 No comment
    EBF3 99.94 0 No comment
    EEF2 100.00 0 No comment
    EIF2B1 100.00 0 No comment
    EIF2B2 99.61 0 No comment
    EIF2B3 98.87 0 No comment
    EIF2B4 100.00 0 No comment
    EIF2B5 100.00 0 No comment
    ELOVL4 100.00 0 No comment
    ELOVL5 100.00 0 No comment
    EPM2A 97.21 0 No comment
    ERCC2 99.22 0 No comment
    ERCC3 100.00 0 No comment
    ERCC4 99.99 0 No comment
    ERCC5 100.00 0 No comment
    ETFA 100.00 0 No comment
    ETFB 100.00 0 No comment
    ETFDH 100.00 0 No comment
    EXOSC3 100.00 0 No comment
    FA2H 95.71 0 No comment
    FARS2 100.00 0 No comment
    FBXL4 100.00 0 No comment
    FDXR 100.00 0 No comment
    FGF14 100.00 0 No comment
    FLVCR1 100.00 0 No comment
    FMR1 99.99 0 No comment
    FOLR1 100.00 0 No comment
    FRMD7 99.98 0 No comment
    FXN 100.00 0 No comment
    GALC 98.98 0 No comment
    GBA1 100.00 0 No comment
    GBA2 100.00 0 No comment
    GBE1 100.00 0 No comment
    GCDH 100.00 0 No comment
    GCLC 99.98 0 No comment
    GCSH 73.97 0 No comment
    GFAP 100.00 0 No comment
    GJC2 96.72 0 No comment
    GLB1 100.00 0 No comment
    GLDC 97.39 0 No comment
    GLRX5 100.00 0 No comment
    GM2A 100.00 0 No comment
    GOSR2 100.00 0 No comment
    GPAA1 95.08 0 No comment
    GPR143 89.09 0 No comment
    ADGRG1 99.99 0 No comment
    GRID2 100.00 0 No comment
    GRM1 99.99 0 No comment
    GSS 100.00 0 No comment
    HARS2 100.00 0 No comment
    HEPACAM 99.85 0 No comment
    HERC1 100.00 0 No comment
    HEXA 100.00 0 No comment
    HEXB 99.19 0 No comment
    HIBCH 100.00 0 No comment
    HPRT1 92.71 0 No comment
    HTRA1 75.65 0 No comment
    IFRD1 98.86 0 No comment
    IGDCC3 95.07 0 No comment
    INPP5E 99.14 0 No comment
    IRF2BPL 97.56 0 No comment
    ITM2B 100.00 0 No comment
    ITPR1 99.99 0 No comment
    KCNA1 100.00 0 No comment
    KCNC3 76.20 0 No comment
    KCND3 100.00 0 No comment
    KCNJ10 100.00 0 No comment
    KCNJ6 100.00 0 No comment
    KCNMA1 99.93 0 No comment
    WASHC5 100.00 0 No comment
    RUBCN 96.60 0 No comment
    NEXMIF 100.00 0 No comment
    KIF1A 98.74 0 No comment
    KIF1C 100.00 0 No comment
    KIF5A 100.00 0 No comment
    KIF5C 100.00 0 No comment
    KIF7 99.64 0 No comment
    L2HGDH 99.75 0 No comment
    LAMA1 99.79 0 No comment
    LAMB1 100.00 0 No comment
    LARS2 100.00 0 No comment
    LMNB1 97.00 0 No comment
    LRPPRC 98.80 0 No comment
    LYST 100.00 0 No comment
    MFSD8 100.00 0 No comment
    MKKS 100.00 0 No comment
    MKS1 100.00 0 No comment
    MLC1 98.57 0 No comment
    MMACHC 100.00 0 No comment
    MME 100.00 0 No comment
    MRE11 99.05 0 No comment
    MSTO1 99.96 0 No comment
    MTFMT 97.83 0 No comment
    MTPAP 99.98 0 No comment
    MTRR 100.00 0 No comment
    MTTP 100.00 0 No comment
    MVK 100.00 0 No comment
    NANS 100.00 0 No comment
    NDUFAF6 95.61 0 No comment
    NDUFS1 100.00 0 No comment
    NDUFS2 100.00 0 No comment
    NDUFS4 99.96 0 No comment
    NDUFS7 93.34 0 No comment
    NDUFS8 100.00 0 No comment
    NDUFV1 99.62 0 No comment
    NEFL 99.62 0 No comment
    NEU1 100.00 0 No comment
    NHLRC1 96.01 0 No comment
    NKX6-2 94.10 0 No comment
    NOL3 100.00 0 No comment
    NOP56 99.99 0 No comment
    NOTCH3 93.46 0 No comment
    NPC1 97.50 0 No comment
    NPC2 100.00 0 No comment
    NPHP1 100.00 0 No comment
    NUBPL 99.92 0 No comment
    OCLN 100.00 0 No comment
    OFD1 97.13 0 No comment
    MED12 99.98 0 No comment
    OPA3 100.00 0 No comment
    OPHN1 99.94 0 No comment
    OTUD4 100.00 0 No comment
    PAX6 100.00 0 No comment
    PDGFRB 99.98 0 No comment
    PDHX 100.00 0 No comment
    PDSS1 85.11 0 No comment
    PDSS2 100.00 0 No comment
    PDYN 100.00 0 No comment
    PEX10 87.10 0 No comment
    PEX16 99.97 0 No comment
    PEX2 100.00 0 No comment
    PEX7 95.60 0 No comment
    PHYH 99.81 0 No comment
    PIK3R5 100.00 0 No comment
    PLA2G6 100.00 0 No comment
    PLEKHG4 100.00 0 No comment
    PLP1 100.00 0 No comment
    PMM2 100.00 0 No comment
    PMPCA 100.00 0 No comment
    PNKD 99.93 0 No comment
    PNKP 99.84 0 No comment
    PNPLA6 99.95 0 No comment
    POLG 100.00 0 No comment
    POLH 100.00 0 No comment
    POLR3A 100.00 0 No comment
    POLR3B 100.00 0 No comment
    PPP2R2B 100.00 0 No comment
    PRICKLE1 100.00 0 No comment
    PRKCG 100.00 0 No comment
    PRNP 99.92 0 No comment
    PRPS1 99.91 0 No comment
    PRRT2 100.00 0 No comment
    PTEN 99.45 0 No comment
    PUM1 100.00 0 No comment
    RAB18 99.99 0 No comment
    RAB3A 100.00 0 No comment
    RAB3GAP1 100.00 0 No comment
    RARS2 100.00 0 No comment
    RELN 100.00 0 No comment
    RNASEH2A 100.00 0 No comment
    RNASEH2C 100.00 0 No comment
    RNF170 100.00 0 No comment
    RNF216 100.00 0 No comment
    RPGRIP1L 96.40 0 No comment
    RRM2B 100.00 0 No comment
    SACS 99.95 0 No comment
    SAMD9L 100.00 0 No comment
    SAMHD1 100.00 0 No comment
    SAR1B 100.00 0 No comment
    SCN8A 100.00 0 No comment
    SEC16A 99.98 0 No comment
    SEPSECS 99.57 0 No comment
    SERAC1 100.00 0 No comment
    SETX 100.00 0 No comment
    SIL1 99.95 0 No comment
    SKOR1 98.57 0 No comment
    SLC16A2 99.97 0 No comment
    SLC17A5 100.00 0 No comment
    SLC19A3 99.90 0 No comment
    SLC1A3 100.00 0 No comment
    SLC20A2 100.00 0 No comment
    SLC25A15 100.00 0 No comment
    SLC25A46 100.00 0 No comment
    SLC2A1 100.00 0 No comment
    SLC39A8 98.92 0 No comment
    SLC52A2 100.00 0 No comment
    SLC52A3 99.86 0 No comment
    SLC9A1 100.00 0 No comment
    SLC9A6 99.66 0 No comment
    SMPD1 100.00 0 No comment
    SNX14 99.98 0 No comment
    SPAST 99.83 0 No comment
    SPG11 100.00 0 No comment
    SPG7 95.78 0 No comment
    SPR 99.98 0 No comment
    SPTBN2 99.93 0 No comment
    SRD5A3 98.61 0 No comment
    STUB1 99.69 0 No comment
    SYNE1 100.00 0 No comment
    SYT14 92.28 0 No comment
    TANGO2 99.94 0 No comment
    TBC1D20 95.06 0 No comment
    TBCC 100.00 0 No comment
    TBP 100.00 0 No comment
    TCTN1 100.00 0 No comment
    TCTN2 100.00 0 No comment
    TCTN3 100.00 0 No comment
    TDP1 100.00 0 No comment
    TDP2 100.00 0 No comment
    TGM6 100.00 0 No comment
    TK2 100.00 0 No comment
    TMEM138 100.00 0 No comment
    TMEM216 99.87 0 No comment
    TMEM231 100.00 0 No comment
    TMEM237 99.85 0 No comment
    TMEM240 96.75 0 No comment
    TMEM67 99.95 0 No comment
    ACD 99.99 0 No comment
    TRIM32 100.00 0 No comment
    TRPC3 99.48 0 No comment
    TSEN2 100.00 0 No comment
    TSEN34 100.00 0 No comment
    TSEN54 91.60 0 No comment
    TSFM 100.00 0 No comment
    TTBK2 100.00 0 No comment
    TTC19 100.00 0 No comment
    TTC8 99.73 0 No comment
    TTPA 96.80 0 No comment
    TUBB4A 100.00 0 No comment
    TUBG1 100.00 0 No comment
    TYMP 100.00 0 No comment
    UBA5 100.00 0 No comment
    VAMP1 100.00 0 No comment
    VLDLR 96.00 0 No comment
    VPS13A 100.00 0 No comment
    VPS13B 100.00 0 No comment
    VPS13D 100.00 0 No comment
    VRK1 100.00 0 No comment
    VWA3B 100.00 0 No comment
    WDPCP 99.11 0 No comment
    WDR73 100.00 0 No comment
    WDR81 99.63 0 No comment
    WFS1 100.00 0 No comment
    WWOX 100.00 0 No comment
    XPA 98.10 0 No comment
    XPC 100.00 0 No comment
    XPR1 99.91 0 No comment
    XRCC1 99.95 0 No comment
    ZC4H2 100.00 0 No comment
    ZFYVE26 100.00 0 No comment
    ZNF423 100.00 0 No comment
    ZNF592 100.00 0 No comment