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  2. Retinal dystrophy / RETNET (gene panel)

Retinal dystrophy / RETNET (gene panel)

Genetic test Export to PDF
Full name:
Retinal dystrophy / RETNET (gene panel)
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)
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centrum Medische Genetica - UZ Gent
RIZIV code:
565493-565504
Accreditation (ISO 15189):
2021-09-11 / 2026-09-10
Turnaround time (maximum):
6 months
Document(s):
Created:
01 Aug 2019 - 14:29
Changed:
31 Jan 2023 - 14:39
  • Retinal dystrophy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA4 99.30 1
    ABCC6 98.57 1
    ABHD12 99.98 1
    ACBD5 99.97 1
    ACO2 99.99 1
    ADAM9 99.89 1
    ADAMTS18 99.99 1
    ADGRA3 99.90 1
    ADGRV1 99.80 1
    ADIPOR1 99.83 1
    AFG3L2 99.97 1
    AGBL5 99.98 1
    AHI1 99.86 1
    AHR 99.79 1
    AIPL1 100.00 1
    ALMS1 99.90 1
    ARHGEF18 99.97 1
    ARL2BP 99.89 1
    ARL3 99.98 1
    ARL6 99.90 1
    ARMS2 100.00 1
    ARSG 100.00 1
    ASRGL1 99.84 1
    ATF6 98.19 1
    ATXN7 99.98 1
    BBIP1 99.99 1
    BBS1 100.00 1
    BBS10 99.98 1
    BBS12 100.00 1
    BBS2 99.90 1
    BBS4 99.88 1
    BBS5 99.00 1
    BBS7 99.42 1
    BBS9 99.75 1
    BEST1 99.86 1
    MFRP 100.00 1
    C2 99.99 1
    C3 100.00 1
    CA4 100.00 1
    CABP4 100.00 1
    CACNA1F 99.94 1
    CACNA2D4 99.99 1
    CAPN5 99.88 1
    CC2D2A 99.95 1
    CCT2 98.46 1
    CDH23 99.95 1
    CDH3 99.98 1
    CDHR1 99.72 1
    CEP164 99.99 1
    CEP19 99.99 1
    CEP250 99.93 1
    CEP290 98.10 1
    CEP78 99.95 1
    CERKL 99.91 1
    CFAP410 100.00 1
    CFAP418 100.00 1
    CFB 99.97 1
    CFH 99.12 1
    CHM 96.46 1
    CIB2 100.00 1
    CLCC1 93.17 1
    CLN3 99.92 1
    CLRN1 99.99 1
    CLUAP1 99.95 1
    CNGA1 99.60 1
    CNGA3 99.95 1
    CNGB1 97.53 1
    CNGB3 99.96 1
    CNNM4 99.93 1
    COL11A1 90.72 1
    COL2A1 99.87 1
    COL9A1 99.91 1
    CRB1 99.73 1
    CRX 99.96 1
    CSPP1 98.31 1
    CTNNA1 99.98 1
    CWC27 99.67 1
    CYP4V2 99.98 1
    DHDDS 98.65 1
    DHX38 99.97 1
    DMD 99.76 1
    DRAM2 96.06 1
    DTHD1 99.92 1
    DYNC2H1 99.66 1
    EFEMP1 99.68 1
    ELOVL1 100.00 1
    ELOVL4 99.91 1
    EMC1 99.85 1
    ERCC6 99.60 1
    ESPN 100.00 1
    EXOSC2 100.00 1
    EYS 99.86 1
    FAM161A 99.77 1
    FBLN5 100.00 1
    FBN2 99.90 1
    FLVCR1 99.91 1
    FSCN2 100.00 1
    FZD4 100.00 1
    GDF6 100.00 1
    GNAT1 100.00 1
    GNAT2 99.87 1
    GNB3 100.00 1
    GNPTG 100.00 1
    GPR179 99.99 1
    GRID2 99.97 1
    GRK1 99.99 1
    GRM6 100.00 1
    GUCA1A 100.00 1
    GUCA1B 99.99 1
    GUCY2D 100.00 1
    HARS1 99.96 1
    HGSNAT 99.93 1
    HK1 99.97 1
    HMCN1 99.44 1
    HMX1 100.00 1
    HTRA1 100.00 1
    IDH3A 99.98 1
    IDH3B 100.00 1
    IFT140 100.00 1
    IFT172 99.98 1
    IFT27 100.00 1
    IFT43 99.97 1
    IFT81 94.64 1
    IFT88 98.26 1
    IMPDH1 92.77 1
    IMPG1 99.93 1
    IMPG2 99.97 1
    INPP5E 99.85 1
    INVS 99.94 1
    IQCB1 99.72 1
    ITM2B 99.85 1
    JAG1 100.00 1
    KCNJ13 99.99 1
    KCNV2 99.97 1
    KIAA1549 99.98 1
    KIF11 99.84 1
    KIF3B 99.99 1
    KIZ 99.98 1
    KLHL7 99.95 1
    LAMA1 99.98 1
    LAMB2 99.99 1
    LCA5 99.89 1
    LRAT 100.00 1
    LRIT3 100.00 1
    LRP5 99.95 1
    LZTFL1 100.00 1
    MAK 99.47 1
    MAPKAPK3 99.97 1
    MERTK 98.90 1
    MFN2 99.98 1
    MFSD8 99.70 1
    MIR204 100.00 1
    MKKS 100.00 1
    MKS1 99.92 1
    MTRFR 99.87 1
    MTTP 99.92 1
    MVK 99.97 1
    MYO7A 99.96 1
    NBAS 99.86 1
    NDP 99.98 1
    NEK2 95.09 1
    NEUROD1 100.00 1
    NMNAT1 99.93 1
    NPHP1 99.05 1
    NPHP3 99.89 1
    NPHP4 99.98 1
    NR2E3 100.00 1
    NR2F1 99.99 1
    NRL 100.00 1
    NYX 100.00 1
    OAT 90.17 1
    OFD1 99.68 1
    MED12 99.95 1
    OPA3 100.00 1
    OPN1LW 71.75 1
    OPN1MW 30.23 1
    OPN1SW 99.97 1
    OTX2 100.00 1
    PANK2 99.99 1
    PAX2 99.99 1
    PCARE 100.00 1
    PCDH15 99.71 1
    PCYT1A 100.00 1
    PDE6A 99.98 1
    PDE6B 100.00 1
    PDE6C 99.91 1
    PDE6G 100.00 1
    PDE6H 99.97 1
    PDZD7 98.09 1
    PEX1 98.80 1
    PEX2 100.00 1
    PEX6 99.99 1
    PEX7 99.72 1
    PGK1 99.93 1
    PHYH 100.00 1
    PITPNM3 99.98 1
    PLA2G5 99.91 1
    PLK4 99.89 1
    PNPLA6 99.99 1
    POC1B 100.00 1
    POC5 99.85 1
    POMGNT1 99.69 1
    PRCD 100.00 1
    PRDM13 99.99 1
    PROM1 99.97 1
    PRPF3 99.73 1
    PRPF31 99.99 1
    PRPF4 99.96 1
    PRPF6 99.98 1
    PRPF8 99.98 1
    PRPH2 99.98 1
    PRPS1 99.95 1
    RAB28 99.97 1
    RAX2 100.00 1
    RB1 99.84 1
    RBP3 99.99 1
    RBP4 99.99 1
    RCBTB1 99.99 1
    RD3 100.00 1
    RDH11 99.99 1
    RDH12 99.98 1
    RDH5 100.00 1
    REEP6 100.00 1
    RGR 99.79 1
    RGS9BP 100.00 1
    RHO 100.00 1
    RIMS1 99.85 1
    RIMS2 99.97 1
    RLBP1 99.99 1
    ROM1 100.00 1
    MAPRE2 99.98 1
    RP1L1 100.00 1
    RP2 99.58 1
    RP9 99.83 1
    RPE65 98.99 1
    RPGR 94.45 1
    RPGRIP1 99.95 1
    RPGRIP1L 96.35 1
    RS1 99.92 1
    RTN4IP1 99.98 1
    SAG 99.98 1
    SAMD11 100.00 1
    SAMD7 99.99 1
    SCAPER 99.75 1
    SCLT1 95.17 1
    SDCCAG8 100.00 1
    SEMA4A 99.81 1
    SF3B2 99.98 1
    SLC24A1 99.92 1
    SLC25A46 99.88 1
    SLC6A6 99.98 1
    SLC7A14 99.99 1
    SNRNP200 99.60 1
    SPATA7 99.80 1
    GPKOW 100.00 1
    TEAD1 99.97 1
    TIMM8A 100.00 1
    TIMP3 100.00 1
    TLR3 99.99 1
    TLR4 99.99 1
    TMEM126A 99.88 1
    TMEM216 99.98 1
    TMEM237 99.30 1
    TOPORS 99.99 1
    TREX1 100.00 1
    TRIM32 100.00 1
    TRNT1 99.97 1
    TRPM1 99.96 1
    TSPAN12 99.89 1
    TTC8 99.67 1
    TTLL5 99.95 1
    TTPA 99.88 1
    TUB 100.00 1
    TUBGCP4 99.80 1
    TUBGCP6 100.00 1
    TULP1 99.99 1
    UNC119 100.00 1
    USH1C 99.99 1
    USH1G 100.00 1
    USH2A 99.88 1
    VCAN 99.99 1
    WDPCP 99.87 1
    WDR19 99.80 1
    WFS1 99.99 1
    WHRN 99.96 1
    ZNF408 99.99 1
    ZNF423 98.94 1
    ZNF513 99.97 1