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D13S319/13qter/12cen Deletion/Enumeration

Catalogue Numbers
LPH 066-S (5 tests)
LPH 066 (10 tests)

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 band 13q14 and trisomy of chromosome 12 are common events in B-cell Chronic Lymphocytic Leukaemia (B-CLL).

Deletions affecting the 13q14 band are the most frequent genetic abnormalities of B-CLL1. This region is found to be deleted heterozygously in 30-60%, and homozygously in 10-20%, of CLL patients2. Recently, the survival rate has been shown to be similar3. Two non-coding RNA genes, DLEU1 and DLEU2, and the genetic marker D13S319, span the pathogenic critical region 13q14.34. DLEU1 is considered to be the most likely CLL-associated candidate tumour suppressor gene within the 13q14 region5.

Trisomy of chromosome 12 is the most common chromosome abnormality in B-CLL6,7,8,9 and is now thought to have strong prognostic significance10. The molecular consequences of the additional chromosome are not clear, though it has been shown to be more common in non-dividing cells rather than mitoses, which are frequently found to be cytogenetically normal. This was deduced from FISH studies using centromeric probes for chromosome 126.

In our hands, Cytocell FISH probes, have proven to be of the highest quality with bright, easy to interpret signals, thus providing confidence in our results. Cytocell’s customer support is outstanding, as their staff are extremely knowledgeable and truly care about their customers and their customers’ needs. Jennie Thurston, Director of Cytogenetics at Carolinas Pathology Group


1. Juliusson G et al., N Eng J Med 1990;323:720-4

2. Hammarsund M et al., FEBS Letters 2004;556:75-80

3. Van Dyke DL et al., Br J Haematology 2009;148:544-50

4. Liu Y et al., Oncogene 1997;15:2463-73

5. Wolf S et al., Hum Mol Genet 2001;10:1275-85

6. Anastasi J et al., Blood 1992;79(7):1796-801

7. Aoun P et al., Leuk Lymphoma 2004;45(8):1595-603

8. Bienz N et al., Br J Haematol 1993;85(4):819-22

9. Escudier SM et al., Blood 1993;81(10):2702-7

10. Chiorazzi. ASH Education Book; 2012: 2012(1):76-87

Microscope Images

D13S319 13qter 12cen Deletion Enumeration magnified
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.