Deletion Probe

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Package Size
100 µl (10 Tests)



XL TP53/NF1 detects deletions in the short and long arm of chromosome 17. The orange labeled probe hybridizes to a specific region at 17p13 covering the TP53 gene region. The green labeled probe hybridizes to the NF1 gene region at 17q11.2.

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Clinical Details

TP53 is a tumor suppressor gene often described as the guardian of the genome. Deletions and/or mutations can be detected in a wide range of hematological neoplasms and are the most common genetic aberrations in human cancer. The neurofibromin 1 gene (NF1), located at 17q11.2, is a tumor suppressor gene negatively regulating the RAS signal transduction pathway. Germline-loss of function can cause neurofibromatosis type I, a congenital genetic disorder of the nervous system which usually appears during childhood. Somatic deletions of NF1 are detected in about 3.5-7% of de novo acute myeloid leukemia (AML) cases and are often associated with a complex aberrant karyotype. Mutations in the remaining NF1 allele are reported with varying frequency. NF1 deleted cells have a decreased sensitivity to Ara-C in cell culture studies.
FISH is a valuable tool for the detection of NF1 deletions which might be easily overlooked by conventional cytogenetics due to the small size of the aberration.

Clinical Applications

  • Chronic Lymphocytic Leukemia (CLL)
  • Multiple Myeloma and Plasma Cell Neoplasms (MM)
  • Acute Myelogenous Leukemia (AML)
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XL TP53/NF1 hybridized to lymphocytes. One normal metaphase is shown.

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Expected Patterns

Expected Pattern 1

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

Expected Pattern 2

Aberrant Cell (typical results):
Two green (2G) and one orange (1O) signal, indicating a deletion of theTP53 locus.

Expected Pattern 3

Aberrant Cell (typical results):
One green (1G) and one orange (1O) signal indicating the deletion of the TP53 and NF1 locus.

Expected Pattern 4

Aberrant Cell (typical results): Three green (3G) and one orange (1O) signal, indicating the presence of isochromosome 17q.

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  • Haferlach et al (2012) Leukemia 26:834-839
  • Boudry-Labis et al (2013) Am J Hematol 88:306-311
  • Tessoulin et al (2017) Blood Rev:doi:org/10.1016/j.blre.2017.03.001