XL 5q31/5q33/
5p15

Deletion Probe

Order Number
D-5081-100-TC
Package Size
100 µl (10 Tests)
Labels
   
Chromosome
5
Regulatory Status
IVDD

IVDR Certification

This probe is IVDR-certified in compliance with the Regulation (EU) 2017/746 on in vitro diagnostic medical devices (IVDR).

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

Please use the switch to change to the IVDR product.

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Product Description

XL 5q31/5q33/<br />5p15

XL 5q31/5q33/5p15 consists of an aqua-labeled probe hybridizing to a region at 5p15.2-15.3, 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).

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 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 5q31/5q33/<br />5p15

XL 5q31/5q33/5p15 hybridized to lymphocytes. One normal metaphase is shown.

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Expected Patterns

Expected Pattern 1

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

Expected Pattern 2

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

Expected Pattern 3

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

Expected Pattern 4

Aberrant Cell (typical results):
Two blue (2B), one green (1G) and two orange (2O) signals resulting from the loss of one green signal.

Expected Pattern 5

Aberrant Cell (typical results):
One green (1G), one orange (1O), and one blue (1B) signal indicating a monosomy 5.

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Literature

  • Horrigan et al (2009) Blood 95:2372-2377
  • Wei et al (2009) PNAS 106:12974-12979
  • Boultwood et al (2010) Blood 16:5803-5811

Downloads

News

MetaSystems DM2019 Largest in History

About 100 guests from 36 countries met on the XVIII. MetaSystems Distributor Meeting (DM) in November to exchange experiences and to get to know new trends and developments at MetaSystems.

MetaSystems DM2019 Largest in History

Second MetaSystems User Day in Altlussheim, Germany

Neon, the outstanding MetaSystems case and image management system, offers many tools and helpful gadgets to streamline routine workflows, for example in cytogenetics labs. The second MetaSystems User Day, addressed to MetaSystems clients from Germany, Austria, and Switzerland, provided in different workshops knowledge helping to unleash the full power of the system.

Second MetaSystems User Day in Altlussheim, Germany