XL Del(5)(q31)

Deletion Probe

Order Number
Package Size
100 µl (10 Tests)


XL Del(5)(q31)

The XL Del(5)(q31) detects deletions in the long arm of chromosome 5. The orange labeled probe is designed to hybridize to the EGR1 locus at 5q31. A green labeled probe hybridizes to a specific locus at 5p15 and functions as a control probe.

Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale.

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Clinical Details

The myelodysplastic syndromes and myeloproliferative disorders are associated with deregulated production of myeloid cells. According to WHO classification (2008) cytogenetic aberrations are observed in about 50 % of MDS cases. The most common aberrations are 5q-, 7/7q-, trisomy 8, del(20q), and inv(3) or t(3,3).

The 5q syndrome is defined as primary myelodysplastic syndrome (MDS) with del(5q) as the sole karyotypic abnormality. Two different critical regions are described, one is located at 5q31 and contains the EGR1 and CDC25C genes. A more distal region at 5q32-q33 containing RPS14 which has been identified as a causal gene for the 5q syndrome.

Clinical Applications

  • Myelodysplastic Syndrome (MDS)
  • Acute Myelogenous Leukemia (AML)
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XL Del(5)(q31)

XL Del(5)(q31) hybridized to lymphocytes. One normal interphase and metaphase are shown.

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Expected Patterns

Expected Pattern 1

Normal Cell:
Two green (2G) and two orange (2O) signals.

Expected Pattern 2

Aberrant Cell (typical results):
Two green (2G) and one orange (1O) signal resulting from loss of one orange signal.

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  • Horrigan et al (2000) Blood 95:2372-2377
  • Ebert et al (2008) Nature 451:335-339
  • Mallo et al (2008) Heamatologica 93:1001-1007