ATM/CEP11 deletion 11q22.3


Test Name

ATM/CEP11 deletion 11q22.3

Test Code

F ATM

Synonyms

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

Associations

Chronic lymphocyctic leukemia (CLL)

CPT Codes

88374

Turnaround Time

5

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 Rejections

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

Description

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 a

References

  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.

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