EGR1 5q deletion, monosomy 5


Test Name

EGR1 5q deletion, monosomy 5

Test Code

F EGR1

Synonyms

5q-, -5/del(5)(q31), deletion 5q31

Associations

5q- syndrome, Myelodysplasia (MDS), Myeloproliferative disease (MPD), Acute myelogenous leukemia (AML);
Lenolidomide

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

An interstitial deletion of chromosome 5, del(5q), is associated with MDS/MPD and AML. Involvement of chromosome 5 is found in 40% of therapy-related myeloid disorders, whereas it is found in only 5–7% of de novo AML. Deletions of the long arm of chromoso

References

  1. Anderson C et al. (2002). Cancer Genetics and Cytogenetics. 136:101–107.
  2. Royer-Pokora B et al. (2006). Cancer Genetics and Cytogenetics. 167:66–69.

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