1. Genetic tests
  2. « Inherited bone marrow failures syndromes » with or without organ dysfunction

« Inherited bone marrow failures syndromes » with or without organ dysfunction

Genetic test Export to PDF
Full name:
« Inherited bone marrow failures syndromes » with or without organ dysfunction
Description:

-Dedicated clinical form and patient's consent form are needed prior to the analysis:

https://www.chuliege.be/jcms/c2_17345784/fr/genetique/informations-pratiques-relatives-aux-analyses

-Check details:

https://www.chu.ulg.ac.be/jcms/c2_25132963/fr/panel-maladies-hematologiques-hereditaires-whole-exome-sequencing

 
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
DNA,
Skin biopsy
Method category:
Sequence analysis: entire coding region
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centre de Génétique Humaine - CHU Sart-Tilman
RIZIV code:
565552-565563
Turnaround time (maximum):
6 weeks
Created:
21 Dec 2021 - 21:29
Changed:
23 Jan 2024 - 12:43
  • Hematologic Familiar Forms - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    RPS7 88.11 0 No
    CHEK2 80.48 0 No
    PTPN11 95.76 0 No
    KRAS 96.88 0 No
    RPS10 98.48 0 No
    FANCM 97.86 0 No
    RPL35A 98.16 0 No
    RPS24 98.39 0 No
    ANKRD26 100.00 0 Genomic start 27389256 to genomic end 27389427 UTR position
    RPL5 96.83 0 No
    SHQ1 97.53 0 No
    RPS26 98.64 0 No
    SRP72 97.98 0 No
    FANCL 98.99 0 No
    EGLN1 98.71 0 No
    JAK2 97.81 0 No
    DNAJC21 98.55 0 No
    NF1 96.15 0 No
    BLM 98.77 0 No
    SBF2 99.19 0 No
    MSH2 98.36 0 No
    ATM 98.90 0 No
    ERCC4 98.33 0 No
    RPL11 99.02 0 No
    NBN 99.57 0 No
    PMS2 98.87 0 No
    ATG2B 99.33 0 No
    BRCA2 99.11 0 No
    ERCC6L2 99.48 0 No
    ATR 99.19 0 No
    VPS45 99.60 0 No
    SRP54 99.44 0 No
    SBDS 96.51 0 No
    UBE2T 98.01 0 No
    RBM8A 99.34 0 No
    RAD51C 99.83 0 No
    FANCC 99.72 0 No
    FANCD2 99.00 0 No
    BRIP1 99.61 0 No
    BRCA1 99.80 0 No
    CEBPA 99.48 0 No
    PARN 99.84 0 No
    MSH6 99.84 0 No
    MECOM 99.83 0 No
    PALB2 99.80 0 No
    FANCE 97.83 0 No
    PAX5 99.72 0 No
    RAD51 99.94 0 No
    ATRX 99.85 0 No
    FANCB 99.61 0 No
    FANCI 99.66 0 No
    STN1 99.75 0 No
    NHP2 99.79 0 No
    MLH1 99.86 0 No
    TERT 100.00 0 Genomic start 1295105 to genomic end 1295162 UTR position
    XRCC2 99.97 0 No
    FANCA 99.93 0 No
    EPAS1 99.62 0 No
    TET2 99.97 0 No
    HAX1 99.98 0 No
    SLX4 99.98 0 No
    CBL 99.87 0 No
    WAS 99.90 0 No
    USB1 100.00 0 No
    EPO 99.99 0 No
    VHL 99.98 0 No
    MAD2L2 100.00 0 No
    RUNX1 99.94 0 No
    CTC1 99.99 0 No
    GSKIP 99.99 0 No
    DKC1 100.00 0 Genomic start 153991031 to genomic end 153991240 UTR position
    SAMD9L 99.96 0 No
    MPL 99.99 0 No
    ETV6 100.00 0 No
    LIG4 99.98 0 No
    NOP10 99.99 0 No
    G6PC3 100.00 0 No
    CSF3R 100.00 0 No
    SAMD9 100.00 0 No
    ELANE 100.00 0 No
    GATA2 100.00 0 No
    RPS19 100.00 0 No
    GFI1 100.00 0 No
    FANCF 100.00 0 No
    TPP1 99.99 0 No
    FANCG 100.00 0 No
    WRAP53 100.00 0 No
    TP53 100.00 0 No
    TINF2 100.00 0 No
    EPOR 100.00 0 No
    DDX41 100.00 0 No
    THPO 100.00 0 No
    TERC 100.00 0 Genomic start 169482849 to genomic end 169483098 UTR position
    RTEL1 100.00 0 Genomic start 62326911 to genomic end 62326911 and genomic start 62326900 to genomic end 62326928 and genomic start 62326958 to genomic end 62326986 intronic positions and 99.98 for CDS