EGR1 5q Deletion (Monosomy 5)
Use
FISH test on hematologic specimens used to detect monosomy 5 and 5q deletion, which are commonly observed in myeloid neoplasms. This test is essential for diagnosing conditions like myelodysplastic syndrome (MDS), myeloproliferative disorders, and acute myelogenous leukemia (AML). Monosomy 5 and 5q deletions have important implications in prognosis and treatment planning, especially in selecting targeted therapies such as lenalidomide.
Special Instructions
Bone marrow is the preferred specimen type for hematologic malignancies, and all efforts will be made to process samples received more than 72 hours after collection. Specimens should be shipped ambiently with a refrigerated gel pack to avoid temperature extremes. Avoid freezing.
Limitations
The test might not provide accurate results if specimens are clotted, exposed to extreme temperatures, or collected with anticoagulants toxic to cells. Also, insufficient cell numbers can lead to a rejection of the specimen. The stability of collected specimens is essential in maintaining test accuracy, particularly considering the 72-hour stability window for specimen viability.
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
Result Turnaround Time
5 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
Not provided
Container
EDTA preferred (NaHep accepted)
Causes for Rejection
Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 72 hours |