XL 5q31/5q33

Deletion Probe

Order Number
Package Size
100 µl (10 Tests)


XL 5q31/5q33

XL 5q31/5q33 consists of an orange-labeled probe hybridizing to the EGR1 gene region at 5q31.2 and a green-labeled probe hybridizing to the RPS14 gene region at 5q32-33.1.

Probe maps are created in accordance with the intended purpose of the product. Solid colored bars do not necessarily indicate that the probe fully covers the indicated genomic region. Therefore, caution is advised when interpreting results generated through off-label use. Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale. Further information is available on request.

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Clinical Details

Myelodysplastic syndromes (MDS) 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 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