XL 20q12/20qter/8cen plus

Deletion Probe

Order Number
Package Size
100 µl (10 Tests)
Regulatory Status

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.

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Product Description

XL 20q12/20qter/8cen plus

XL 20q12/20qter/8cen plus consists of an aqua-labeled probe hybridizing to the centromere of chromosome 8, an orange-labeled probe hybridizing to the PTPRT gene region at 20q12 and a green-labeled probe hybridizing to a region at 20q13.3.

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) are a group of hematopoietic stem cell disorders associated with ineffective hematopoiesis and peripheral blood cytopenia. MDS patients have a high risk of progressing to acute leukemia. In about 50% of de novo MDS, cytogenetic aberrations are observed. A chromosome 20q deletion is seen in about 2% of MDS cases. Patients with a sole del(20q) have a favorable outcome. About 30% of all del(20q) patients are carrying additional recurrent chromosomal abnormalities such as del(5q), monosomy 7, del(7q) and trisomy 8. The presence of three or more additional aberrations is associated with an inferior outcome. In rare cases, the 20q deletion can occur as an isoderivative chromosome ider(20q) with loss of the p-arm of chromosome 20 and partial trisomy of the remaining regions on the q-arm. The knowledge of the cytogenetic status in MDS patients if of prognostic significance.

Clinical Applications

  • Myelodysplastic Syndrome (MDS)
  • Acute Myelogenous Leukemia (AML)
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XL 20q12/20qter/8cen plus

XL 20q12/20qter/8cen plus hybridized to lymphocytes. One normal interphase is shown.

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Expected Patterns

Expected Pattern 1

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

Expected Pattern 2

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 3

Aberrant Cell (typical results):
Three blue (3B), two green (2G) and one orange (1O) signal resulting from loss of one orange signal and a gain of the blue labeled chromosome.

Expected Pattern 4

Aberrant Cell (typical results):
Two blue (2B), three green (3G), and one orange (1O) signal resulting from the presence of ider(20q).

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  • Solé et al (2005) Haematologica 90:1168-1178
  • Douet-Gilbert et al (2008) Br J Haematol 143:716-720
  • Bacher et al (2014) Br J Haematol 164:822-833



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