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B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

Disease Export to PDF
Name:
B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
ORPHAcode:
585877
XREF(s):
Orphanet
Analyte(s):
PDGFRA
FOXP1
Created:
17 May 2022 - 02:46
Changed:
22 Jun 2023 - 16:14
  • 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