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Del(5q) Deletion

Fda cleared
Area of Interest
Catalogue Numbers
USA-LPH 024 (10 tests)

Probe Specification

  • EGR1, 5q31.2, Texas Red
  • 5p15.3, FITC Green

The Del(5q) Deletion FISH Probe Kit consists of a 186kb probe, labeled in Texas Red, covering a region within 5q31.2, including the D5S500 marker; and a 376kb probe, labeled in FITC green, within 5p15.3, including the D5S630 marker.

Probe Information

Deletions of the long arm of chromosome 5 are one of the most common karyotypic abnormalities reported in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) with myelodysplasia related changes1,2. EGR1 (early growth response 1), a tumor suppressor gene at 5q31.2, has been shown to act through haploinsufficiency to initiate the development of MDS/AML3. Loss of 5q31.2, the region detected by this probe set, which includes the EGR1 gene, have been linked to a more aggressive form of MDS and AML and is often accompanied by additional cytogenetic abnormalities and a poorer prognosis2,4,5. This probe can also detect some deletions that are associated with 5q- syndrome2. However, the probe does not cover the critical deleted region for 5q33 and is not intended for the detection of all deletions associated with 5q- syndrome.

Recommended Protocol

Intended Use

The Del(5q) Deletion FISH Probe Kit is a fluorescence in situ hybridization (FISH) Test used to detect deletions within the long arm of chromosome 5 at location 5q31.2 in fixed bone marrow specimens from patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). The test is indicated for characterization of patient specimens consistent with World Health Organization (WHO) guidelines for Classification of Tumours of Haematopoietic and Lymphoid Tissues (Revised 4th Edition) and in conjunction with other clinicopathological criteria. The assay results are intended to be interpreted by a qualified pathologist or cytogeneticist. The test is not intended for use as a stand-alone diagnostic, disease screening, or as a companion diagnostic.

Limitations of the Procedure

For In Vitro Diagnostic Use. Rx only.

Reporting and interpretation of FISH results should be consistent with professional standards of practice and should take into consideration other clinical and diagnostic information. This kit is intended as an adjunct to other diagnostic laboratory tests and therapeutic action should not be initiated on the basis of the FISH result alone. Failure to adhere to the protocol may affect the performance and lead to false results.

Each lab is responsible for establishing their own cut-off values. Each laboratory should test sufficiently large number of samples to establish normal population distribution of the signal levels and to assign a cut-off value. The product is for professional use only and is intended to be interpreted by a qualified Pathologist or Cytogeneticist.

For sale in the US only. This product has not been licensed in accordance with Canadian law.


1. Swerdlow et al., (eds,) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue, Lyon, France, 4th edition, IARC,2017.

2. Ebert BL., Best Pract Res Clin Haematol. Netherlands; 2010 Dec;23(4):457–61.

3. Boultwood J et al., Blood. 2010;116(26):5803–11.

4. Joslin JM et al., Blood. 2007 Jul 15;110(2):719–26.

5. Fang J et al., Cell Rep. 2014;8(5):1328–38.

Microscope Images

Del 5q microscope v2
Dish1Sample and Slide Preparation
Droplet5Post-Hybridization Washes
Microscope green6Analyze

For additional support and advice about the FISH technique please visit our support page