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Hereditary spastic paraplegia (gene panel - 249 genes)

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Full name:
Hereditary spastic paraplegia (gene panel - 249 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
Deletion/duplication analysis
Whole Exome Sequencing (WES)
Method technique:
Next Generation Sequencing (NGS)
MLPA based techniques
Laboratory:
Centre de Génétique Humaine - Erasme ULB
RIZIV code:
565493-565504
EQA:
  • 2020 Ataxia and spastic paraplegias GenQA (Genomics Quality Assessment)
  • 2023 Ataxia and spastic paraplegias GenQA (Genomics Quality Assessment)
Accreditation (ISO 15189):
2021-03-25 / 2024-09-09
Turnaround time (maximum):
6 months
Created:
22 Aug 2019 - 12:41
Changed:
19 Jan 2024 - 09:24
URL:
https://ulbgenetics.be/compendium-des-analyses/#GM60
  • Hereditary spastic paraplegia (188 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCD1 97.56 1
    ABHD12 88.30 1
    ADAR 100.00 1
    AFG3L2 94.80 1
    AIMP1 99.97 1
    ALDH18A1 100.00 1
    ALDH3A2 99.94 1
    ALS2 100.00 1
    AMPD2 99.90 1
    ANG 100.00 1
    AP4B1 100.00 1
    AP4E1 99.99 1
    AP4M1 100.00 1
    AP4S1 100.00 1
    AP5Z1 99.25 1
    ARG1 100.00 1
    ARL6IP1 100.00 1
    ARSI 99.82 1
    ASPA 100.00 1
    ATAD3A 97.50 1
    ATL1 99.89 1
    ATP13A2 98.30 1
    AUH 99.24 1
    B4GALNT1 99.99 1
    BICD2 100.00 1
    BSCL2 100.00 1
    BTD 100.00 1
    MTRFR 100.00 1
    C19ORF12 100.00 1
    CAPN1 99.97 1
    CCT5 99.92 1
    CDK16 99.96 1
    CLN8 100.00 1
    COASY 100.00 1
    CPT1C 100.00 1
    CSF1R 99.99 1
    CTNNB1 100.00 1
    CYP27A1 99.38 1
    CYP2U1 93.20 1
    CYP7B1 100.00 1
    DARS1 100.00 1
    DARS2 100.00 1
    DDHD1 99.58 1
    DDHD2 100.00 1
    DSTYK 100.00 1
    ELOVL4 100.00 1
    ENTPD1 100.00 1
    ERCC2 98.91 1
    ERLIN1 100.00 1
    ERLIN2 100.00 1
    EXOSC3 100.00 1
    FA2H 95.71 1
    HYCC1 100.00 1
    RETREG1 100.00 1
    FARS2 100.00 1
    FBXO7 99.78 1
    FIG4 100.00 1
    FLRT1 100.00 1
    FRMD7 99.98 1
    FUS 100.00 1
    FXN 100.00 1
    GAD1 100.00 1
    GALC 98.98 1
    GAN 98.52 1
    GARS1 97.89 1
    GART 99.99 1
    GBA1 100.00 1
    GBA2 100.00 1
    GBE1 100.00 1
    GCH1 99.71 1
    GFAP 100.00 1
    GJA1 100.00 1
    GJC2 96.72 1
    GLB1 100.00 1
    GLRX5 100.00 1
    GLTP 100.00 1
    GPR143 89.09 1
    GSN 97.80 1
    HACE1 98.41 1
    HEPACAM 99.85 1
    HEXA 100.00 1
    HSD17B4 100.00 1
    HSPD1 100.00 1
    IBA57 92.01 1
    IFIH1 100.00 1
    IRF2BPL 97.56 1
    KCNJ6 100.00 1
    KCNMA1 99.93 1
    KDM5C 99.97 1
    WASHC5 100.00 1
    NEXMIF 100.00 1
    KIDINS220 100.00 1
    KIF1A 98.74 1
    KIF1C 100.00 1
    KIF5A 100.00 1
    KLC2 100.00 1
    KLC4 99.99 1
    L1CAM 99.98 1
    L2HGDH 99.75 1
    LAMB1 100.00 1
    LYST 100.00 1
    MARS1 100.00 1
    MARS2 100.00 1
    MFN2 100.00 1
    MLC1 98.57 1
    MTPAP 99.98 1
    NANS 100.00 1
    NEFL 100.00 1
    NIPA1 92.99 1
    NKX6-2 100.00 1
    NT5C2 100.00 1
    OCLN 100.00 1
    MED12 99.98 1
    OPA3 100.00 1
    OPTN 100.00 1
    PANK2 100.00 1
    PDYN 100.00 1
    PGAP1 100.00 1
    PLA2G6 100.00 1
    PLP1 100.00 1
    PNPLA6 99.95 1
    POLR3A 100.00 1
    POLR3B 100.00 1
    PPP2R2B 100.00 1
    PRUNE1 100.00 1
    PSEN1 100.00 1
    PUM1 100.00 1
    RAB18 99.99 1
    RAB3GAP1 100.00 1
    RAB3GAP2 100.00 1
    RARS1 99.99 1
    REEP1 100.00 1
    REEP2 97.04 1
    RNASEH2A 100.00 1
    RNASEH2B 94.58 1
    RNASEH2C 100.00 1
    RNASET2 100.00 1
    RTN2 99.44 1
    SACS 99.95 1
    SAMD9L 100.00 1
    SAMHD1 100.00 1
    SERAC1 100.00 1
    SETX 100.00 1
    SIL1 99.95 1
    SLC16A2 99.97 1
    SLC25A15 100.00 1
    SLC25A46 100.00 1
    SLC2A1 100.00 1
    SLC33A1 100.00 1
    SLC39A14 99.94 1
    SMPD1 100.00 1
    SOD1 100.00 1
    SOX10 100.00 1
    SPAST 99.83 1
    SPG11 100.00 1
    SPART 100.00 1
    SPG21 100.00 1
    SPG7 95.78 1
    SPR 99.98 1
    SUN1 100.00 1
    SYNE1 100.00 1
    TANGO2 99.94 1
    TARDBP 99.43 1
    TBC1D20 95.06 1
    TECPR2 99.92 1
    TFG 99.98 1
    TGM6 100.00 1
    TH 98.79 1
    TRPV4 100.00 1
    TTBK2 100.00 1
    TUBB4A 100.00 1
    TUBG1 100.00 1
    UBQLN2 99.30 1
    UCHL1 99.66 1
    USP8 100.00 1
    VAMP1 100.00 1
    VAPB 99.77 1
    VCP 97.10 1
    VPS13B 100.00 1
    VPS37A 99.28 1
    WDR45 100.00 1
    WDR45B 99.94 1
    WDR48 100.00 1
    ZC4H2 100.00 1
    ZFR 100.00 1
    ZFYVE26 100.00 1
    ZFYVE27 100.00 1