1. Genetic tests
  2. Neuromuscular disorders (548 genes)

Neuromuscular disorders (548 genes)

Genetic test Export to PDF
Full name:
Neuromuscular disorders (548 genes)
Description:

Muscular dystrophy (Congenital), Myopathy (congenital, distal, others), Myotonic syndrome, Muscle channelopathies, Metabolic myopathy, Congenital myasthenic syndrome, Motor neuron diseases, Hereditary motor and sensory neuropathy, Malignant hyperthermia, other neuromuscular disorder
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
Mendeliome
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centre de Génétique Humaine - Erasme ULB
RIZIV code:
565493-565504
EQA:
  • 2022 Muscular dystrophies GenQA (Genomics Quality Assessment)
Accreditation (ISO 15189):
2021-03-25 / 2024-09-09
Turnaround time (maximum):
6 months
Document(s):
Created:
22 Aug 2019 - 14:42
Changed:
23 Jan 2023 - 15:13
URL:
http://erasmeinfo.ulb.ac.be/Compendium/scripts/biolist.idc?Parlistanal=201908
  • Neuromuscular disorders (548 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 0 No comment
    ABCD1 97.56 0 No comment
    ABHD12 88.30 0 No comment
    ABHD5 99.85 0 No comment
    ACAD9 100.00 0 No comment
    ACADL 98.57 0 No comment
    ACADM 99.87 0 No comment
    ACADS 97.51 0 No comment
    ACADVL 98.04 0 No comment
    ACTA1 99.79 0 No comment
    ACVR1 100.00 0 No comment
    ADAR 100.00 0 No comment
    ADSS1 99.98 0 No comment
    AFG3L2 94.80 0 No comment
    AGK 100.00 0 No comment
    AGL 100.00 0 No comment
    AGRN 96.53 0 No comment
    AIFM1 99.98 0 No comment
    AIMP1 99.97 0 No comment
    ALDH18A1 100.00 0 No comment
    ALDH3A2 99.94 0 No comment
    ALDOA 100.00 0 No comment
    ALG13 99.53 0 No comment
    ALG14 100.00 0 No comment
    ALG2 99.83 0 No comment
    ALS2 100.00 0 No comment
    AMPD1 100.00 0 No comment
    AMPD2 99.90 0 No comment
    ANG 100.00 0 No comment
    ANO5 100.00 0 No comment
    ANXA11 99.99 0 No comment
    AP4B1 100.00 0 No comment
    AP4E1 99.99 0 No comment
    AP4M1 100.00 0 No comment
    AP4S1 100.00 0 No comment
    AP5Z1 99.25 0 No comment
    APTX 99.96 0 No comment
    AR 100.00 0 No comment
    ARG1 100.00 0 No comment
    ARHGEF10 99.98 0 No comment
    ARHGEF28 99.05 0 No comment
    ARL6IP1 100.00 0 No comment
    ARSI 99.82 0 No comment
    ASAH1 100.00 0 No comment
    ASCC1 91.30 0 No comment
    ATL1 99.89 0 No comment
    ATL3 99.93 0 No comment
    ATM 100.00 0 No comment
    ATP13A2 98.30 0 No comment
    ATP1A1 100.00 0 No comment
    ATP2A1 100.00 0 No comment
    ATP7A 100.00 0 No comment
    ATXN2 93.25 0 No comment
    AUH 99.24 0 No comment
    B3GALNT2 92.96 0 No comment
    B4GAT1 99.99 0 No comment
    B4GALNT1 99.99 0 No comment
    BAG3 100.00 0 No comment
    BCS1L 100.00 0 No comment
    BICD2 100.00 0 No comment
    BIN1 99.94 0 No comment
    BSCL2 100.00 0 No comment
    BVES 100.00 0 No comment
    TWNK 100.00 0 No comment
    MTRFR 100.00 0 No comment
    C19ORF12 100.00 0 No comment
    C1QBP 99.47 0 No comment
    C9ORF72 99.96 0 No comment
    CACNA1A 99.53 0 No comment
    CACNA1S 100.00 0 No comment
    CAPN1 99.97 0 No comment
    CAPN3 99.99 0 No comment
    CASQ1 100.00 0 No comment
    CAV3 100.00 0 No comment
    CCDC78 100.00 0 No comment
    CCT5 99.92 0 No comment
    CFL2 100.00 0 No comment
    CHAT 99.97 0 No comment
    CHCHD10 99.66 0 No comment
    CHKB 99.75 0 No comment
    CHMP2B 100.00 0 No comment
    CHRNA1 99.99 0 No comment
    CHRNB1 99.95 0 No comment
    CHRND 100.00 0 No comment
    CHRNE 100.00 0 No comment
    CHRNG 99.87 0 No comment
    CHST14 99.50 0 No comment
    CLCN1 100.00 0 No comment
    CLN3 100.00 0 No comment
    CLN8 100.00 0 No comment
    CLTCL1 99.04 0 No comment
    CNBP 100.00 0 No comment
    CNTN1 100.00 0 No comment
    CNTNAP1 100.00 0 No comment
    COL12A1 100.00 0 No comment
    COL13A1 99.52 0 No comment
    COL6A1 99.90 0 No comment
    COL6A2 99.98 0 No comment
    COL6A3 100.00 0 No comment
    COLQ 100.00 0 No comment
    COQ9 100.00 0 No comment
    COX10 100.00 0 No comment
    COX15 99.99 0 No comment
    COX20 100.00 0 No comment
    COX6A1 100.00 0 No comment
    COX6B1 100.00 0 No comment
    COX8A 100.00 0 No comment
    CPT1C 100.00 0 No comment
    CPT2 98.55 0 No comment
    CRYAB 100.00 0 No comment
    CSF1R 99.99 0 No comment
    CTDP1 100.00 0 No comment
    CYP27A1 99.38 0 No comment
    CYP2U1 93.20 0 No comment
    CYP7B1 95.41 0 No comment
    DAG1 100.00 0 No comment
    DARS2 100.00 0 No comment
    DCAF8 100.00 0 No comment
    DCTN1 100.00 0 No comment
    DDHD1 99.58 0 No comment
    DDHD2 100.00 0 No comment
    DES 100.00 0 No comment
    DGAT2 100.00 0 No comment
    DGUOK 100.00 0 No comment
    DHTKD1 99.54 0 No comment
    DMD 99.96 0 No comment
    DMPK 99.91 0 No comment
    DMXL2 100.00 0 No comment
    DNAJB2 100.00 0 No comment
    DNAJB6 91.94 0 No comment
    DNM2 99.84 0 No comment
    DNMT1 99.54 0 No comment
    DOK7 97.44 0 No comment
    DOLK 100.00 0 No comment
    DPAGT1 100.00 0 No comment
    DPM1 100.00 0 No comment
    DPM2 100.00 0 No comment
    DPM3 100.00 0 No comment
    DST 100.00 0 No comment
    DYNC1H1 99.92 0 No comment
    DYSF 99.72 0 No comment
    ECEL1 99.80 0 No comment
    EGR2 100.00 0 No comment
    ELOVL4 100.00 0 No comment
    EMD 98.97 0 No comment
    ENO3 100.00 0 No comment
    ENTPD1 100.00 0 No comment
    ERBB3 100.00 0 No comment
    ERBB4 100.00 0 No comment
    ERCC2 98.91 0 No comment
    ERLIN1 100.00 0 No comment
    ERLIN2 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
    EXOSC8 100.00 0 No comment
    FA2H 95.71 0 No comment
    FAM111B 100.00 0 No comment
    FAM126A 100.00 0 No comment
    RETREG1 93.72 0 No comment
    FARS2 100.00 0 No comment
    FASTKD2 100.00 0 No comment
    FBLN5 100.00 0 No comment
    FBN2 100.00 0 No comment
    FBXL4 100.00 0 No comment
    FBXO38 100.00 0 No comment
    FBXO7 99.78 0 No comment
    FDX2 100.00 0 No comment
    FGD4 99.98 0 No comment
    CFH 100.00 0 No comment
    FIG4 100.00 0 No comment
    FKRP 100.00 0 No comment
    FKTN 100.00 0 No comment
    FLAD1 100.00 0 No comment
    FLNC 100.00 0 No comment
    FLRT1 100.00 0 No comment
    FLVCR1 100.00 0 No comment
    FOXRED1 100.00 0 No comment
    FUS 100.00 0 No comment
    FXN 94.27 0 No comment
    GAA 100.00 0 No comment
    GABRA3 99.59 0 No comment
    GAD1 100.00 0 No comment
    GALC 98.98 0 No comment
    GAN 98.52 0 No comment
    GARS1 97.89 0 No comment
    GART 99.99 0 No comment
    GBA 100.00 0 No comment
    GBA2 100.00 0 No comment
    GBE1 100.00 0 No comment
    GCH1 99.71 0 No comment
    GDAP1 100.00 0 No comment
    GFAP 100.00 0 No comment
    GFER 99.09 0 No comment
    GFPT1 99.94 0 No comment
    GGPS1 100.00 0 No comment
    GJB1 100.00 0 No comment
    GJB3 100.00 0 No comment
    GJC2 96.72 0 No comment
    GLA 100.00 0 No comment
    GLB1 100.00 0 No comment
    GLE1 100.00 0 No comment
    GLI3 100.00 0 No comment
    GLTP 100.00 0 No comment
    GMPPB 100.00 0 No comment
    GNB4 100.00 0 No comment
    GNE 100.00 0 No comment
    GOLGA2 95.41 0 No comment
    GOSR2 100.00 0 No comment
    GSN 97.80 0 No comment
    GYG1 94.40 0 No comment
    GYS1 100.00 0 No comment
    HADHA 100.00 0 No comment
    HADHB 100.00 0 No comment
    HARS1 99.73 0 No comment
    HEPACAM 99.85 0 No comment
    HEXA 100.00 0 No comment
    HEXB 99.19 0 No comment
    HINT1 100.00 0 No comment
    HK1 100.00 0 No comment
    HNRNPA1 97.19 0 No comment
    HNRNPA2B1 100.00 0 No comment
    HNRNPDL 99.98 0 No comment
    HOXD10 100.00 0 No comment
    HRAS 100.00 0 No comment
    HSD17B4 100.00 0 No comment
    HSPB1 100.00 0 No comment
    HSPB3 100.00 0 No comment
    HSPB8 100.00 0 No comment
    HSPD1 95.18 0 No comment
    HSPG2 99.19 0 No comment
    IBA57 92.01 0 No comment
    IFIH1 100.00 0 No comment
    IFRD1 98.86 0 No comment
    IGHMBP2 99.38 0 No comment
    ELP1 100.00 0 No comment
    INF2 99.92 0 No comment
    INPP5K 99.31 0 No comment
    ISCU 98.41 0 No comment
    CRPPA 95.50 0 No comment
    ITGA7 100.00 0 No comment
    KARS1 100.00 0 No comment
    KBTBD13 99.16 0 No comment
    KCNA1 100.00 0 No comment
    KCNE1 100.00 0 No comment
    KCNE2 100.00 0 No comment
    KCNE3 100.00 0 No comment
    KCNH2 98.15 0 No comment
    KCNJ12 100.00 0 No comment
    KCNJ2 100.00 0 No comment
    KCNQ1 100.00 0 No comment
    WASHC5 100.00 0 No comment
    KIF1A 98.74 0 No comment
    KIF1B 99.84 0 No comment
    KIF1C 100.00 0 No comment
    KIF21A 98.54 0 No comment
    KIF5A 100.00 0 No comment
    KLC4 99.99 0 No comment
    KLHL40 100.00 0 No comment
    KLHL41 100.00 0 No comment
    KLHL9 100.00 0 No comment
    KY 100.00 0 No comment
    L1CAM 99.98 0 No comment
    LAMA2 100.00 0 No comment
    LAMA5 98.39 0 No comment
    LAMB2 100.00 0 No comment
    LAMP2 99.60 0 No comment
    LARGE1 100.00 0 No comment
    LDB3 100.00 0 No comment
    LDHA 99.42 0 No comment
    LGI4 100.00 0 No comment
    LIMS2 91.30 0 No comment
    LITAF 100.00 0 No comment
    LMNA 99.28 0 No comment
    LMOD3 100.00 0 No comment
    LPIN1 99.97 0 No comment
    CORIN 99.01 0 No comment
    LRPPRC 98.80 0 No comment
    LRSAM1 99.33 0 No comment
    MARS1 100.00 0 No comment
    MATR3 100.00 0 No comment
    MB 100.00 0 No comment
    MED25 100.00 0 No comment
    MEGF10 99.99 0 No comment
    MFN2 100.00 0 No comment
    MLC1 98.57 0 No comment
    MAP3K20 100.00 0 No comment
    MARS2 100.00 0 No comment
    MME 100.00 0 No comment
    MORC2 100.00 0 No comment
    MPV17 100.00 0 No comment
    MPZ 99.80 0 No comment
    MSTN 100.00 0 No comment
    MTM1 99.91 0 No comment
    MTMR14 99.92 0 No comment
    MTMR2 99.55 0 No comment
    MTPAP 99.98 0 No comment
    MUSK 100.00 0 No comment
    MYBPC1 100.00 0 No comment
    MYBPC3 100.00 0 No comment
    MYH7B 99.85 0 No comment
    MYH2 100.00 0 No comment
    MYH3 100.00 0 No comment
    MYH4 100.00 0 No comment
    MYH7 100.00 0 No comment
    MYH8 100.00 0 No comment
    MYL1 100.00 0 No comment
    MYO18B 99.80 0 No comment
    MYO9A 99.74 0 No comment
    MYOT 100.00 0 No comment
    MYPN 99.97 0 No comment
    NAGLU 96.69 0 No comment
    NDRG1 100.00 0 No comment
    NDUFA1 100.00 0 No comment
    NDUFA10 96.45 0 No comment
    NDUFA11 100.00 0 No comment
    NDUFA12 100.00 0 No comment
    NDUFA2 100.00 0 No comment
    NDUFA3 100.00 0 No comment
    NDUFA9 100.00 0 No comment
    NDUFAF1 100.00 0 No comment
    NDUFAF2 100.00 0 No comment
    NDUFAF5 99.96 0 No comment
    NDUFAF6 95.61 0 No comment
    NDUFS1 100.00 0 No comment
    NDUFS2 100.00 0 No comment
    NDUFS3 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
    NDUFV2 100.00 0 No comment
    NEB 100.00 0 No comment
    NEFH 81.41 0 No comment
    NEFL 100.00 0 No comment
    NEK1 99.98 0 No comment
    NGF 100.00 0 No comment
    NIPA1 92.99 0 No comment
    NT5C2 100.00 0 No comment
    NTRK1 98.36 0 No comment
    NUBPL 99.92 0 No comment
    MED12 99.98 0 No comment
    OPA3 100.00 0 No comment
    OPTN 100.00 0 No comment
    ORAI1 92.14 0 No comment
    P4HA1 100.00 0 No comment
    PABPN1 100.00 0 No comment
    PANK2 100.00 0 No comment
    PDHA1 92.64 0 No comment
    PDK3 97.80 0 No comment
    PDYN 100.00 0 No comment
    PET100 100.00 0 No comment
    PEX1 100.00 0 No comment
    PEX7 95.60 0 No comment
    PFKM 100.00 0 No comment
    PFN1 100.00 0 No comment
    PGAM2 99.97 0 No comment
    PGAP1 100.00 0 No comment
    PGK1 99.88 0 No comment
    PGM1 100.00 0 No comment
    PHKA1 99.99 0 No comment
    PHKB 99.97 0 No comment
    PHOX2A 96.24 0 No comment
    PHYH 99.81 0 No comment
    PIEZO2 100.00 0 No comment
    PIP5K1C 94.98 0 No comment
    PLA2G6 100.00 0 No comment
    PLEC 99.26 0 No comment
    PLEKHG5 100.00 0 No comment
    PLP1 100.00 0 No comment
    PMP2 100.00 0 No comment
    PMP22 100.00 0 No comment
    PNKP 99.84 0 No comment
    PNPLA2 98.21 0 No comment
    PNPLA6 99.95 0 No comment
    PNPLA8 100.00 0 No comment
    POGLUT1 100.00 0 No comment
    POLG 100.00 0 No comment
    POLG2 100.00 0 No comment
    POLR3A 100.00 0 No comment
    POLR3B 100.00 0 No comment
    POMGNT1 100.00 0 No comment
    POMGNT2 100.00 0 No comment
    POMK 100.00 0 No comment
    POMT1 100.00 0 No comment
    POMT2 99.53 0 No comment
    PPP2R2B 100.00 0 No comment
    PRDM12 81.28 0 No comment
    PREPL 99.98 0 No comment
    PRKAG2 95.75 0 No comment
    PRNP 99.92 0 No comment
    PRPH 99.62 0 No comment
    PRPS1 99.91 0 No comment
    PRUNE1 100.00 0 No comment
    PRX 99.89 0 No comment
    PSEN1 100.00 0 No comment
    HACD1 94.60 0 No comment
    CAVIN1 100.00 0 No comment
    PTRH2 99.91 0 No comment
    PUS1 100.00 0 No comment
    PYGM 100.00 0 No comment
    PYROXD1 99.99 0 No comment
    RAB3GAP2 100.00 0 No comment
    RAB7A 100.00 0 No comment
    RAPSN 100.00 0 No comment
    RBCK1 99.76 0 No comment
    RBM7 100.00 0 No comment
    REEP1 100.00 0 No comment
    REEP2 97.04 0 No comment
    RNASEH2B 94.58 0 No comment
    RNASET2 100.00 0 No comment
    RRM2B 100.00 0 No comment
    RTN2 99.44 0 No comment
    RYR1 99.39 0 No comment
    RYR3 100.00 0 No comment
    SACS 99.95 0 No comment
    SBF1 98.38 0 No comment
    SBF2 99.92 0 No comment
    SCN10A 100.00 0 No comment
    SCN11A 99.98 0 No comment
    SCN4A 100.00 0 No comment
    SCN5A 100.00 0 No comment
    SCN9A 99.99 0 No comment
    SCO1 100.00 0 No comment
    SCO2 93.85 0 No comment
    SELENON 84.10 0 No comment
    SEPTIN9 99.38 0 No comment
    SETX 100.00 0 No comment
    SGCA 100.00 0 No comment
    SGCB 91.50 0 No comment
    SGCD 100.00 0 No comment
    SGCE 93.30 0 No comment
    SGCG 100.00 0 No comment
    SGPL1 100.00 0 No comment
    SH3TC2 100.00 0 No comment
    SIGMAR1 92.51 0 No comment
    SIL1 99.95 0 No comment
    SLC12A6 100.00 0 No comment
    SLC16A1 100.00 0 No comment
    SLC16A2 99.97 0 No comment
    SLC18A3 100.00 0 No comment
    SLC22A5 100.00 0 No comment
    SLC25A15 100.00 0 No comment
    SLC25A20 100.00 0 No comment
    SLC25A4 99.81 0 No comment
    SLC25A42 99.60 0 No comment
    SLC25A46 100.00 0 No comment
    SLC2A1 100.00 0 No comment
    SLC33A1 100.00 0 No comment
    SLC52A2 100.00 0 No comment
    SLC52A3 99.86 0 No comment
    SLC5A7 100.00 0 No comment
    SMCHD1 100.00 0 No comment
    SMN1 100.00 0 No comment
    SNAP25 100.00 0 No comment
    SOD1 100.00 0 No comment
    SOX10 95.36 0 No comment
    SPAST 99.83 0 No comment
    SPEG 98.78 0 No comment
    SPG11 100.00 0 No comment
    SPART 100.00 0 No comment
    SPG21 100.00 0 No comment
    SPG7 95.78 0 No comment
    SPR 99.98 0 No comment
    SPTBN4 98.07 0 No comment
    SPTLC1 99.27 0 No comment
    SPTLC2 96.43 0 No comment
    SQSTM1 94.05 0 No comment
    SRPK3 98.13 0 No comment
    STAC3 100.00 0 No comment
    STIM1 100.00 0 No comment
    SUCLA2 99.86 0 No comment
    SUCLG1 93.27 0 No comment
    SUN1 100.00 0 No comment
    SURF1 100.00 0 No comment
    SYNE1 100.00 0 No comment
    SYNE2 100.00 0 No comment
    SYT2 99.96 0 No comment
    TACO1 99.66 0 No comment
    TANGO2 99.94 0 No comment
    TARDBP 100.00 0 No comment
    TARS2 100.00 0 No comment
    WWTR1 97.30 0 No comment
    TBCE 100.00 0 No comment
    TBK1 99.99 0 No comment
    TCAP 100.00 0 No comment
    TDP1 100.00 0 No comment
    TECPR2 99.92 0 No comment
    TFG 99.98 0 No comment
    TGM6 100.00 0 No comment
    TH 98.79 0 No comment
    TIA1 100.00 0 No comment
    TK2 100.00 0 No comment
    TMEM43 100.00 0 No comment
    RXYLT1 100.00 0 No comment
    TMEM65 90.50 0 No comment
    MYMK 100.00 0 No comment
    TNNI2 100.00 0 No comment
    TNNT1 94.05 0 No comment
    TNNT3 100.00 0 No comment
    TNPO3 100.00 0 No comment
    TOR1A 99.70 0 No comment
    TOR1AIP1 100.00 0 No comment
    TPI1 99.90 0 No comment
    TPM2 100.00 0 No comment
    TPM3 98.74 0 No comment
    TRAPPC11 99.97 0 No comment
    TRIM2 100.00 0 No comment
    TRIM32 100.00 0 No comment
    TRIM54 96.63 0 No comment
    TRIM63 100.00 0 No comment
    TRIP4 100.00 0 No comment
    TRMT5 100.00 0 No comment
    TRPV4 100.00 0 No comment
    TSFM 86.80 0 No comment
    TTBK2 100.00 0 No comment
    TTN 100.00 0 No comment
    TTR 100.00 0 No comment
    TUBA4A 100.00 0 No comment
    TUBB3 99.01 0 No comment
    TUBB4A 100.00 0 No comment
    TYMP 100.00 0 No comment
    UBA1 100.00 0 No comment
    UBQLN2 99.30 0 No comment
    UNC13A 99.74 0 No comment
    USP8 100.00 0 No comment
    VAMP1 100.00 0 No comment
    VAPB 99.77 0 No comment
    VARS2 100.00 0 No comment
    VCP 97.10 0 No comment
    VMA21 77.99 0 No comment
    VPS33B 100.00 0 No comment
    VPS37A 99.28 0 No comment
    VRK1 100.00 0 No comment
    WARS1 100.00 0 No comment
    WDR45 100.00 0 No comment
    WDR48 100.00 0 No comment
    WNK1 100.00 0 No comment
    XK 99.44 0 No comment
    YARS1 100.00 0 No comment
    YARS2 100.00 0 No comment
    ZC4H2 100.00 0 No comment
    ZFHX2 100.00 0 No comment
    ZFR 100.00 0 No comment
    ZFYVE26 100.00 0 No comment
    ZFYVE27 100.00 0 No comment