XL del(5)(q31)

Deletion Probe

Order Number
D-5085-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosome
5
Regulatory Status
IVDD

IVDR Certification

MetaSystems Probes has already certified a large part of its portfolio, according to IVDR. For organizational reasons, we currently provide only the IVDD product.

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Product Description

XL del(5)(q31)

XL del(5)(q31) consists of a green-labeled probe hybridizing to a region at 5p15.2-15.3 and an orange-labeled probe hybridizing to the EGR1 gene region at 5q31.2.

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).

5q syndrome is defined as 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 containing RPS14 has been identified as a causal region for 5q syndrome.

Clinical Applications

  • Myelodysplastic Syndrome (MDS)
  • Acute Myelogenous Leukemia (AML)
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Images

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, indicating the deletion of the EGR1 at 5q31.

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Literature

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

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News

IVDR Certification

MetaSystems Probes has received IVDR certification for our initial 26 fluorescence in situ hybridization (FISH) probes from the notified body, BSI. Achieving this milestone was not without its challenges, and we are delighted to have accomplished IVDR certification for this probe set at an early stage.

IVDR Certification

New Probes Catalog is Online!

 

MetaSystems Probes is pleased to announce the new catalog including new and innovative products and supporting information. A PDF version of the new catalog is available for download here.

New Probes Catalog is Online!