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  2. Myeloid neoplasms with germline predisposition (Hereditary MDS/Acute Leukemia) (gene panel)

Myeloid neoplasms with germline predisposition (Hereditary MDS/Acute Leukemia) (gene panel)

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Full name:
Myeloid neoplasms with germline predisposition (Hereditary MDS/Acute Leukemia) (gene panel)
Description:

Targeted NGS panel including (GATA2; RUNX1; TEL (ETV6); CEBPA; ANKRD26; DDX41; TP53; TERT; TERC)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Post-natal Diagnosis,
Predictive and Pre-symptomatic diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Targeted variant analysis
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centre de Génétique Humaine - CHU Sart-Tilman
RIZIV code:
565530-565541
Accreditation (ISO 15189):
2022-02-24 / 2026-02-23
Turnaround time (maximum):
30 days
Document(s):
Created:
30 Aug 2019 - 10:38
Changed:
23 Jan 2024 - 12:03
  • Hereditary Myelodysplastic /Acute Leukemia Predisposition Syndromes (gene panel)
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CEBPA 100.00 0 Exon 1
    ETV6 100.00 0 Exons 1-6
    GATA1 100.00 0 Exons 2-6
    GATA2 100.00 0 Exons 2-6
    JAK2 100.00 0 Exons 12 and 14
    MPL 100.00 0 Exon 10
    RUNX1 100.00 0 Exons 1-6
    ANKRD26 100.00 0 5’UTR
    CSF3R 100.00 0 exons 14 and17
    DDX41 100.00 0 exons 3 ;5 ;6 ;8 ;10 ;11 ;15
    SRP72 100.00 0 exons 4 and10
    STAT3 100.00 0 exons 19-24
    TERT 100.00 0 exons 2-9
    TERC 100.00 0 exon 1
    TP53 100.00 0 exons 2-11