XL RUNX1

Break Apart Probe

Order Number
D-5096-100-OG
Package Size
100 µl (10 Tests)
Labels
  
Chromosome
21

Description

XL RUNX1

XL RUNX1 consists of an orange-labeled probe hybridizing proximal to the RUNX1 gene region at 21q22.1 and a green-labeled probe hybridizing distal to the RUNX1 gene region at 21q22.1.

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

Several recurrent balanced translocations and inversions, and their variants, are recognized in the WHO category acute myeloid leukemia (AML) with recurrent genetic abnormalities. Furthermore, several cytogenetic abnormalities are considered sufficient to establish the WHO diagnosis of AML with myelodysplasia-related features if 20% or more blood or marrow blasts are present.

The RUNX1 gene, located on chromosome 21q22.1, is crucial for the establishment of definite hematopoiesis and the generation of hematopoietic stem cells in the embryo. The most common translocations involving RUNX1 are the t(8;21) RUNX1T1/RUNX1 in AML and t(12;21) ETV6/RUNX1 in acute lymphoblastic leukemia (ALL), both associated with a more favorable diagnosis. More than 40 different translocation partners have currently been identified making the RUNX1 break apart probe a valuable tool in molecular cytogenetics.

Clinical Applications

  • Acute Myelogenous Leukemia (AML)
  • Acute Lymphoblastic Leukemia (ALL)
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Images

XL RUNX1

XL RUNX1 was hybridized to lymphocytes. One normal interphase and metaphase are shown.

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Expected Patterns

Expected Pattern 1

Normal Cell:
Two green-orange colocalization/fusion signals (2GO).

Expected Pattern 2

Aberrant Cell (typical results):
One green-orange colocalization/fusion signal (1GO), one separate green (1G) and orange (1O) signal each resulting from a chromosome break in the relevant locus.

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Literature

  • Martinez-Ramirez et al (2001) Haematologica 86:1245-1253
  • Zhang et al (2002) PNAS 99:3070-3075
  • Harrison et al (2014) Leukemia 28:1015-1021

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