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ATM/CEP11 deletion 11q22.3 by FISH

Test Code


Test Synonyms

11q22.3, del(11)(q22.3)


Chronic lymphocyctic leukemia (CLL)


Fluorescence in situ Hybridization (FISH)

Turnaround Time

3-5 days

Specimen Requirements

5mL peripheral blood in sodium heparin
3mL bone marrow in sodium heparin
Fixed cytogenetically prepared cells in sterile centrifuge tube with pellet visible in 3:1, Methanol:Acetic Acid

Specimen Stability
Blood and bone marrow = 4°C to 25°C, specimens are stable up to 72 hours
Fixed cell pellets are stable for years when stored at -28°C to 15°C
Storage & Handling

4°C to 25°C during transit, but specimens may be transported on refrigerated gel packs. Do not allow the gel pack to come in contact with the specimen. Do not freeze. Extreme temperatures should be avoided.

Causes for Rejection

Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells

Reference Range

This probe set allows status assessment of the ATM gene region at 11q22.3. In a normal cell with two intact copies of the ATM gene region, a two green signal pattern is observed. In an abnormal cell with a deletion in the ATM gene region, fewer than two green signals are observed.


B-cell chronic lymphocytic leukemia (B-CLL) is the most common leukemia in the elderly population. With conventional cytogenetic (CC) analysis, ~50% of CLL cases show clonal aberrations. Using FISH, the percentage of patients with abnormalities rises to almost 80%, the most frequent being 13q14, ATM, p53 deletions and trisomy 12. Genetic aberrations were found in 36.7% with CC and in 68.4% with FISH. The frequencies of abnormalities are approximately: 13q deletion, 42.1%; trisomy 12, 19.2%; ATM deletion, 17.5%; and TP53 deletion, 8.7%. FISH can detect this abnormality in interphase or metaphase cells.

  1. Ripollés Lorena et al.(2006). Cancer Genetics and Cytogenetics. 171:57e64.
  2. Sindelarova L et al. (2005). Incidence of chromosomal anomalies detected with FISH and their clinical correlations in B-chronic lymphocytic leukemia. Cancer Genet Cytogenet. 160(1):27.
  3. Bullrich F et al. (1999). ATM mutations in B-cell chronic lymphocytic leukemia. Cancer Research. 59:24.