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Catalogue Numbers
LPH 067-S (2x5 tests)
LPH 067 (2x10 tests)

The Cytocell CLL PROFILER Kit is intended to detect deletions of TP53, ATM and D13S319, and gains of the chromosome 12 centromere sequences in peripheral blood or bone marrow samples from patients with chronic lymphocytic leukaemia (CLL).

P53(TP53)/ATM Probe Combination

Probe Specification

  • P53, 17p13.1, Red
  • ATM, 11q22.3, Green

The P53 component consists of a 161kb probe, labelled in red that covers the whole P53 (TP53) gene and flanking regions. The ATM component consists of a 182kb probe, labelled in green that covers the telomeric end of the NPAT gene and the centromeric end of the ATM gene beyond the D11S3347 marker.

Probe Information

The TP53 (tumor protein p53) gene at 17p13.1 is one of most important tumour suppressor genes; it acts as a potent transcription factor with fundamental role in the maintenance of genetic stability. Loss of TP53 is reported in 10% of patients with CLL, and is considered to be the poorest prognostic marker in that disease1,2.

The ATM (ATM serine/threonine kinase) gene at 11q22.3 is an important checkpoint gene involved in the management of cell damage; its function is to assess the level of DNA damage in the cell and attempt repair by phosphorylating key substrates involved in the DNA damage response pathway3. Loss of ATM is reported in 18% of patients with CLL, and is considered a poor prognostic marker in that disease4.

Analysis of the ATM/TP53 interaction in CLL has shown that TP53 and ATM play an important role in the proliferation of lymphoid cancer3. It has been shown that ATM enhances the phosphorylation of TP53, should the damage be so great that the cell requires destruction by apoptosis (which is mediated by TP53). Deletion of ATM removes this checkpoint activity and hence activation of TP53. Thus, there is no attempt made to repair, or apoptosis of, damaged cells, despite the presence of TP53. In the absence of ATM, damaged cells are allowed to continue to proliferate5.

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D13S319/13qter/12cen Deletion/Enumeration

Probe Specification

  • D13S319, 13q14.2, Red
  • 13qter, 13q34, Blue
  • D12Z3, 12p11.1-q11.1, Green

The Chromosome 12 Alpha Satellite Probe is a repeat sequence probe, labelled in green, which recognises the centromeric repeat sequence D12Z3. The D13S319 probe, labelled in red, covers a 156kb region including the entire DLEU1 and most of the DLEU2 genes and the D13S319, D13S272 and RH47934 markers. The 13qter subtelomere specific probe, labelled in blue, allows identification of chromosome 13 and acts as a control probe.

Probe Information

Deletions affecting 13q14 are also the most frequent structural genetic aberrations in chronic lymphocytic leukaemia (CLL)6,7,8. This region is found to be heterozygously deleted in 30-60% and homozygously deleted in 10-20% of CLL patients9. The survival rate has been shown to be similar for the two groups10. Patients with 13q14 deletions are classified as very low risk, in the absence of any other genetic lesions1.

Two non-coding RNA genes, DLEU1 (deleted in lymphocytic leukemia 1) and DLEU2 (deleted in lymphocytic leukemia 2), plus the genetic marker D13S319, span the pathogenic critical region of 13q1411. DLEU1 is considered to be the most likely CLL-associated candidate tumour suppressor gene within the 13q14 region12. Trisomy 12 is a recurrent abnormality in CLL, seen in 20% of the cases13 and often appears as the unique cytogenetic aberration (40-60% of cases with trisomy 12)7. Patients with trisomy 12 are classified as low-risk in the absence of any other genetic lesions1.

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I am grateful for the excellent products I receive from Cytocell at a reasonable price, but more importantly the superb customer support.  The speed in which I receive answers or suggestions makes my life as a director much easier and allows me to focus on patient care.  The quality and consistency of Cytocell’s probes means I can trust the results, and my clients get their results in a timely manner. Dr. Theresa C. Brown, Director, Cytogenetics Laboratory, Hayward Genetics Center, Tulane University School of Medicine


  1. Rossi D, et al., Blood. 2013 Feb 21;121(8):1403-12
  2. Baliakas P, et al., Leukemia. 2014;(April):1-8
  3. Stankovic et al., Blood 2004;103(1):291-300
  4. Dohner et al., N Eng J Med 2000;343:1910-1916
  5. Khanna et al., Nature Genetics 1998;20(4):398-400
  6. Juliusson G et al., N Eng J Med 1990;323:720-4
  7. Puiggros et al., Biomed Res Int 2014;1-13
  8. Kasar et al., Nature Communications 2015;6:1-12
  9. Hammarsund M et al., FEBS Letters 2004;556:75-80
  10. Van Dyke DL et al., Br J Haematology 2009;148:544-50
  11. Liu Y et al., Oncogene 1997;15:2463-73
  12. Wolf S et al., Hum Mol Genet 2001;10:1275-85
  13. Swerdlow et al., (eds,) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue, Lyon, France, 4th edition, IARC,2017
  14. Arsham, MS., Barch, MJ. and Lawce HJ. (eds.) (2017) The AGT Cytogenetics Laboratory Manual. New Jersey: John Wiley & Sons Inc.
  15. Mascarello JT, Hirsch B, Kearney HM, et al. Section E9 of the American College of Medical Genetics technical standards and guidelines: fluorescence in situ hybridization. Genet Med. 2011;13(7):667-675.
  16. Wiktor AE, Dyke DLV, Stupca PJ, Ketterling RP, Thorland EC, Shearer BM, Fink SR, Stockero KJ, Majorowicz JR, Dewald GW. Preclinical validation of fluorescence in situ hybridization assays for clinical practice. Genetics in Medicine. 2006;8(1):16–23.
Area of Interest*


This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed haematological samples.

*Disease information supported by the literature and is not a reflection of the intended purpose of this product.