XL 4q12

Translocation/Deletion Probe

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Package Size
100 µl


XL 4q12

The XL 4q12 probe is a triple-color probe which detects rearrangements and deletions at 4q12. The probe contains an orange probe hybridizing to the CHIC2 gene region. A green probe hybridizes proximal to FIP1L1, and a blue probe hybridizes to PDGFRA and the region distal to the gene.

Clinical Details

In 2008 the World Health Organization (WHO) classification of tumors of hematopoietic
and lymphoid tissues introduced a new category for myeloid and lymphoid neoplasms
with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1. Many of these cases
present as a myeloproliferative neoplasm, usually with eosinophilia.

The hypereosinophilic syndrome may result from a novel fusion tyrosine kinase - FIP1L1/PDGFRA - that is a consequence of an interstitial chromosomal deletion which includes the CHIC2 gene region. The FIP1L1/PDGFRA fusion protein has been proven to be a therapeutic target of Imatinib. By triple-color FISH not only deletions involving CHIC2 but also translocations involving the 4q12 region can be detected.

Clinical Applications

  • Chronic Myelogenous Leukemia and Myeloproliferative Neoplasms (CML/MPN)
  • Acute Myelogenous Leukemia (AML)


XL 4q12

XL 4q12 hybridized to lymphocytes. Two normal interphases are shown with two blue-green-orange fusion signals each.

Expected Patterns

Expected Pattern 1

Normal Cell:
Two blue-green-orange fusion signals (2BGO).

Expected Pattern 2

Aberrant Cell (typical results):
One blue-green-orange (1BGO) and one blue-green (1BG) fusion signal, indicating a deletion of CHIC2.


  • Cools et al (2003) N Engl J Med 348: 1201-1214
  • Griffin et al (2003) PNAS 100: 7830-7835
  • Pardanani et al (2003) Blood 102: 3093-3096


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