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Intellectual Disability (gene panel)

Genetic test Export to PDF
Full name:
Intellectual Disability (gene panel)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
DNA
Method category:
Sequence analysis: entire coding region
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
Bi-directional Sanger Sequence analysis
Laboratory:
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
RIZIV code:
565493-565504
Accreditation (ISO 15189):
2022-10-07 / 2027-10-06
Turnaround time (maximum):
2 to 6 months
Document(s):
Created:
01 Dec 2021 - 17:32
Changed:
23 Jan 2023 - 16:16
  • Intellectual Disability (104 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADNP 100.00 1 NM_001282531.3
    ANKRD11 100.00 1 NM_013275.6
    ARHGEF9 100.00 1 NM_001353921.2
    ARID1A 100.00 1 NM_006015.6
    ARID1B 98.83 1 NM_001374828.1
    ARX 100.00 1 NM_139058.3
    ASXL3 100.00 1 NM_030632.3
    ATRX 100.00 1 NM_000489.5
    BCL11A 100.00 1 NM_022893.4
    BRAF 100.00 1 NM_001354609.2
    BRWD3 100.00 1 NM_153252.5
    CAMK2G 100.00 1 NM_172171.2
    CAMTA1 100.00 1 NM_015215.4
    CASK 100.00 1 NM_003688.3
    CBL 100.00 1 NM_005188.4
    CDKL5 100.00 1 NM_001323289.2
    CERT1 100.00 1 NM_001130105.1
    CHAMP1 100.00 1 NM_032436.4
    CHD2 100.00 1 NM_001271.4
    CNOT3 100.00 1 NM_014516.4
    CREBBP 100.00 1 NM_004380.3
    CTNNB1 100.00 1 NM_001904.4
    CTSA 100.00 1 NM_000308.4
    DDX3X 100.00 1 NM_001356.4
    DHCR7 100.00 1 NM_001360.3
    DNM1 100.00 1 NM_004408.4
    DYRK1A 100.00 1 NM_001347721.2
    EHMT1 100.00 1 NM_024757.5
    EP300 100.00 1 NM_001429.4
    EZH2 100.00 1 NM_004456.5
    FGD1 100.00 1 NM_004463.3
    FGFR3 100.00 1 NM_001163213.1
    FMR1 100.00 1 NM_002024.6
    FOXG1 100.00 1 NM_005249.5
    FOXP1 100.00 1 NM_032682.6
    GLI3 100.00 1 NM_000168.6
    GNAO1 100.00 1 NM_020988.3
    HACE1 100.00 1 NM_020771.4
    HIVEP2 100.00 1 NM_006734.4
    HNRNPK 100.00 1 NM_031263.4
    HNRNPU 100.00 1 NM_031844.3
    HPRT1 100.00 1 NM_000194.3
    HRAS 100.00 1 NM_005343.4
    HUWE1 100.00 1 NM_031407.7
    IQSEC2 100.00 1 NM_001111125.3
    ITPR1 100.00 1 NM_001168272.1
    KANSL1 100.00 1 NM_001193466.2
    KAT6A 100.00 1 NM_006766.5
    KCNH1 100.00 1 NM_172362.3
    KCNQ2 100.00 1 NM_172107.4
    KDM6A 100.00 1 NM_001291415.2
    KIF1A 100.00 1 NM_001244008.1
    KMT2A 100.00 1 NM_001197104.2
    KPTN 100.00 1 NM_007059.4
    KRAS 100.00 1 NM_033360.4
    LRP1 100.00 1 NM_002332.3
    MECP2 100.00 1 NM_001110792.2 et NM_004992.3
    MED12 100.00 1 NM_005120.3
    MED13L 100.00 1 NM_015335.4
    MID1 100.00 1 NM_000381.4
    MTOR 100.00 1 NM_004958.4
    NAA10 100.00 1 NM_003491.4
    NALCN 100.00 1 NM_052867.4
    NEXMIF 100.00 1 NM_001008537.3
    NF1 100.00 1 NM_001042492.3
    NFIX 100.00 1 NM_002501.4
    NIPBL 100.00 1 NM_133433.4
    NLGN1 100.00 1 NM_014932.5
    NLGN3 100.00 1 NM_181303.2
    NLGN4X 100.00 1 NM_181332.3
    NSD1 100.00 1 NM_022455.4
    PACS1 100.00 1 NM_018026.4
    PCGF2 100.00 1 NM_007144.3
    PIGT 100.00 1 NM_015937.6
    POU1F1 100.00 1 NM_000306.4
    PPP2R1A 100.00 1 NM_014225.6
    PPP2R5D 100.00 1 NM_006245.4
    PTCHD1 100.00 1 NM_173495.3
    PURA 100.00 1 NM_005859.5
    RAI1 100.00 1 NM_030665.4
    SATB2 100.00 1 NM_001172509.2
    SCN1A 100.00 1 NM_001165963.3
    SCN2A 100.00 1 NM_001040142.2
    SCN8A 100.00 1 NM_001330260.2
    SETBP1 100.00 1 NM_015559.3
    SETD5 100.00 1 NM_001080517.3
    SHANK1 100.00 1 NM_016148.5
    SHANK2 100.00 1 NM_133266.5
    SLC2A1 100.00 1 NM_006516.3
    SLC9A6 100.00 1 NM_001042537.1
    SMARCA2 100.00 1 NM_003070.5
    SMC1A 100.00 1 NM_006306.4
    SMC3 100.00 1 NM_005445.4
    SMS 100.00 1 NM_004595.5
    SOX3 100.00 1 NM_005634.2
    STXBP1 100.00 1 NM_001032221.6
    SYNGAP1 100.00 1 NM_006772.3
    TBR1 100.00 1 NM_006593.4
    TCF4 100.00 1 NM_001083962.2
    TUBB3 100.00 1 NM_006086.4
    UBE3A 100.00 1 NM_130839.5
    USP9X 100.00 1 NM_001039591.3
    VPS13B 100.00 1 NM_017890.4
    WDR45 100.00 1 NM_001029896.2