1. Genetic tests
  2. Erythrocytoses, polycythémies, thrombocytoses et neutropénies congénitales (gene panel)

Erythrocytoses, polycythémies, thrombocytoses et neutropénies congénitales (gene panel)

Genetic test Export to PDF
Full name:
Erythrocytoses, polycythémies, thrombocytoses et neutropénies congénitales (gene panel)
Description:

Analysed genes: ANKRD26;BPGM; CSF1R; CSF3R; DDX41; EGLN1; ELANE; EPAS1; EPO; EPOR; GATA2; JAK1; JAK2; JAK3; SH2B3=LNK; MPL; PIEZO1 ; SLC30A10 ;STAT3; STAT5B; THPO; VHL
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Prognostic diagnosis,
Therapeutic Management
Specimen:
Peripheral (whole) blood on EDTA,
DNA
Method category:
Sequence analysis: entire coding region
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
Created:
20 Dec 2022 - 17:05
Changed:
24 Jan 2024 - 12:18
  • Erythocyoses, polycythémies, thrombocytoses congénitales (gene panel) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANKRD26 0.00 0
    BPGM 0.00 0
    CSF1R 0.00 0
    CSF3R 0.00 0
    DDX41 0.00 0
    EGLN1 0.00 0
    ELANE 0.00 0
    EPAS1 0.00 0
    EPO 0.00 0
    EPOR 0.00 0
    GATA2 0.00 0
    JAK1 0.00 0
    JAK2 0.00 0
    JAK3 0.00 0
    MPL 0.00 0
    PIEZO1 0.00 0
    SLC30A10 0.00 0
    STAT3 0.00 0
    STAT5B 0.00 0
    THPO 0.00 0
    VHL 0.00 0
    SH2B3 0.00 0