XL 5q31/5q33

Deletion Probe

Order Number
Package Size
100 µl (10 Tests)


XL 5q31/5q33

The XL 5q31/5q33 locus-specific probe detects deletions in the long arm of chromosome 5. The orange labeled probe hybridizes to a specific region at 5q31 including the EGR1 gene. The green labeled probe hybridizes specifically to 5q33 and includes the RPS14 gene.

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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 a 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 contains 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 5q31/5q33

XL 5q31/5q33 hybridized to bone marrow cells. Both metaphase and interphase show a signal pattern of one orange and two green signals indicating a deletion in 5q31.

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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, indicating a deletion in 5q31.2.

Expected Pattern 3

Aberrant Cell (typical results): One green (1G) and two orange (2O) signals, indicating a deletion in 5q33.

Expected Pattern 4

Aberrant Cell (typical results): One green (1G) and one orange (1O) signal, indicating deletions of both loci in 5q31.2 and 5q33.

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  • Horrigan et al (2000) Blood 95:2372-2377
  • Wei et al (2009) Proc Natl Acad Sci USA 106:12974-12979
  • Boultwood et al (2010) Blood 16:5803-5811