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  2. RASopathy (gene panel)

RASopathy (gene panel)

Genetic test Export to PDF
Full name:
RASopathy (gene panel)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Post-natal Diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Amniotic fluid,
Chorionic villi,
DNA
Method category:
Sequence analysis: entire coding region
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centrum Menselijke Erfelijkheid - KUL
RIZIV code:
565493-565504
Accreditation (ISO 15189):
2021-07-08 / 2026-02-02
Turnaround time (maximum):
4 months
Document(s):
Created:
22 Jul 2019 - 10:41
Changed:
04 Dec 2023 - 12:30
URL:
https://laboboeken.nexuzhealth.com/pboek/internet/GHB%20CME/15589
  • RASopathy - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range
    BRAF 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    CBL 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    HRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    KRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    LZTR1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    MAP2K1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    MAP2K2 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    MRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    NRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    PPP1CB 95.00 0 core gene +% of coding sequence represents the minimum CS1 interpretable range
    PTPN11 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    RAF1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    RASA1 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range
    RASA2 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range
    RIT1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    RRAS 80.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range
    RRAS2 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range
    SHOC2 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    SOS1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    SOS2 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range