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Brain malformations (gene panel)

Genetic test Export to PDF
Full name:
Brain malformations (gene panel)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Amniotic fluid,
Chorionic villi
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
Turnaround time (maximum):
6 months
Document(s):
Created:
09 Dec 2019 - 12:08
Changed:
07 Mar 2022 - 07:47
  • Brain malformations (34 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ASPM 98.88 0
    CCDC88C 100.00 0
    CDK5RAP2 99.64 0
    CDON 100.00 0
    CENPJ 100.00 0
    CEP135 100.00 0
    CEP152 99.96 0
    DISP1 100.00 0
    DLL1 100.00 0
    FGF8 99.79 0
    FGFR1 94.19 0
    FOXH1 100.00 0
    GAS1 100.00 0
    GCM2 78.95 0
    GLI2 100.00 0
    L1CAM 96.28 0
    MCPH1 99.98 0
    MPDZ 99.70 0
    NODAL 100.00 0
    SLC25A15 99.87 0
    ORC4 100.00 0
    ORC6 100.00 0
    PCNT 100.00 0
    PTCH1 99.88 0
    SHH 98.82 0
    SIX3 99.47 0
    SMAD2 99.61 0
    STIL 100.00 0
    SUFU 100.00 0
    CRIPTO 100.00 0
    TGIF1 100.00 0
    TRMT10A 100.00 0
    WDR62 100.00 0
    ZIC2 100.00 0