Hereditary Myelodysplastic /Acute Leukemia Predisposition Syndromes (gene panel)

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Full name:
Hereditary Myelodysplastic /Acute Leukemia Predisposition Syndromes (gene panel)
Abbreviation:
ffSMD/AML
Laboratory:
Centre de Génétique Humaine - CHU Sart-Tilman
Created:
12 Jul 2019 - 10:31
Changed:
07 Nov 2022 - 15:58
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ANKRD26 100.00 0 5’UTR
CEBPA 100.00 0 Exon 1
CSF3R 100.00 0 exons 14 and17
DDX41 100.00 0 exons 3 ;5 ;6 ;8 ;10 ;11 ;15
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
SRP72 100.00 0 exons 4 and10
STAT3 100.00 0 exons 19-24
TERC 100.00 0 exon 1
TERT 100.00 0 exons 2-9
TP53 100.00 0 exons 2-11