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  2. Cerebral cavernous malformation (gene panel)

Cerebral cavernous malformation (gene panel)

Genetic test Export to PDF
Full name:
Cerebral cavernous malformation (gene panel)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Predictive and Pre-symptomatic diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Chorionic villi,
Amniotic fluid
Method category:
Sequence analysis: entire coding region
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centre de Génétique Médicale UCL
RIZIV code:
565471-565482
Turnaround time (maximum):
3 months
Document(s):
Created:
24 Jul 2019 - 16:17
Changed:
16 Feb 2024 - 16:23
  • Cerebral cavernous malformation (3 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    KRIT1 100.00 1 Part of constitutional vascular panel
    CCM2 100.00 1 Part of constitutional vascular panel
    PDCD10 100.00 1 Part of constitutional vascular panel
  • Vascular malformations (germline) (38 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    KRIT1 100.00 1 exons 5 - 20
    CCM2 100.00 1 exons 1 - 10
    PDCD10 100.00 1 exons 3 - 9
    RASA1 100.00 1 exons 1-25
    EPHB4 100.00 1 exons 1-17
    STAMBP 100.00 1 exons 3-11
    PTEN 100.00 1 exons 1-9
    ACVRL1 100.00 1 exons 2-10
    ENG 100.00 1 exons 1-15
    SMAD4 100.00 1 exons 2-12
    GDF2 100.00 1 exons 1-2
    TEK 100.00 1 exons 1-23
    GLMN 100.00 1 exons 2-19
    ANGPT2 100.00 1 exons 1-9
    CCBE1 100.00 1 exons 1-11
    CDC42 100.00 1 exons 2-6
    FAT4 100.00 1 exons 1-17
    FLT4 100.00 1 exons 1-30
    FOXC2 100.00 1 exon 1
    GATA2 100.00 1 exons 3-7
    GJA1 100.00 1 exon 2
    GJC2 100.00 1 exon 2
    HGF 100.00 1 exons 1-18
    HRAS 100.00 1 exons 2-5
    IKBKG 100.00 1 exons 1-10
    ITGA9 100.00 1 exons 1-28
    KIF11 100.00 1 exons 1-22
    KRAS 100.00 1 exons 1-5
    NRAS 100.00 1 exons 2-5
    PIEZO1 100.00 1 exons 1-51
    PTPN11 100.00 1 exons 1-15
    PTPN14 100.00 1 exons 2-19
    RAF1 100.00 1 exons 2-17
    SOS1 100.00 1 exons 1-23
    SOX18 100.00 1 exons 1-2
    TSC1 100.00 1 exons 3-23
    TSC2 100.00 1 exons 1-42
    VEGFC 100.00 1 exons 2-7