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Deletion 20q12 by FISH

Test Code

F D20

Test Synonyms

20q-, deletion 20q12


Acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), myeloproliferative disorder (MPD)


Fluorescence in situ Hybridization (FISH)

Turnaround Time

3-5 days

Specimen Requirements

2.0 mL (min. 1.0 mL) peripheral blood in sodium heparin preferred, EDTA accepted
1.0 mL (min. 0.5 mL) bone marrow in sodium heparin preferred, EDTA accepted
5 mm^3 fresh tissue or 3.0 mL (min. 2.0 mL) FNA in MPLN RPMI media

Specimen Stability
Peripheral blood and bone marrow stable at 18-25°C for 72 hours
Fresh tissue or FNA at 2-8°C stable for 72 hours
Storage & Handling

Whole blood and bone marrow, ship ambient
Fresh tissue and FNA ship in a Styrofoam container with a cool/refrigerated pack (Do not allow cool pack to directly contact sample)

Causes for Rejection

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

Reference Range

In a normal cell, the expected pattern is the two orange signal pattern. In an abnormal cell containing the deletion, the one orange signal pattern is observed.


Deletions of the long arm of chromosome 20 represent a common chromosomal abnormality associated with myeloid disorders, in particular with myeloproliferative disorders (MPD), myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). The deletion is rarely seen in lymphoid malignancies. Other chromosome changes commonly occurring with deletion 20q are monosomy 5/5q-, monosomy 7/7q-, and trisomy 8. FISH can detect this abnormality in either interphase or metaphase cells.

  1. Brezinova Jana et al. (2005). Cancer Genetics and Cytogenetics. 160:188–192.
  2. Bilhou-Nabera C. (2000). del(20q) in myeloid malignancies. Atlas Genet Cytogenet Oncol Haematol.
  3. Wang PW et al. (1998). Refinement of the commonly deleted segments in myeloid leukemias with del(20q). Gene Chromosomes Cancer. 21(2):75.