Test Directory

• EGR1 , 5q31.2
• 5p15.3

An interstitial deletion of chromosome 5, del(5q), is associated with myelodysplastic syndrome (MDS), myeloproliferative disorder (MPD) and acute myeloid leukemia (AML). Deletion of 5q can be observed in both de novo and therapy related AML. It is also seen as monosomy 5. In AML, 5q deletion is usually associated with a complex karyotype. The prognosis of AML with 5q-/-5 is generally unfavorable, associated with rapid disease progression and poor outcome and survival, especially when it is seen as a part of complex karyotype. Deletions of the long arm of chromosome 5 could vary considerably, and involvement of all bands between 5q11 and 5q33~q34 have been identified. The frequent loss of 5q suggests that important tumor suppressor genes map to this genomic segment. The so-called “5q- syndrome” associated with isolated deletion of chromosome 5 in MDS is a favorable prognostic indicator. In contrast, complex karyotypes with deletion of chromosome 5 in MDS are associated with an adverse outcome. Deletion of 5q or monosomy 5 in AML, with or without other chromosome changes, is also associated with a poor prognosis. Other chromosome changes commonly occurring with 5q- are monosomy 7/7q-, trisomy 8, and 20q-. These changes can be detected by using individual FISH probes or as part of the MDS probe panel. FISH for abnormalities of chromosome 5 can be performed on interphase or metaphase cells.

Specimen Types: Leukemic Blood or Bone Marrow

Preferred Collection Container: Green Top (Sodium Heparin)

Alternate Collection Container: Lavendar Top (EDTA)

Desired Specimen Volume: 3 - 5 mL

Minimum Acceptable Volume: 1 mL

• Lithium heparin is not acceptable.
• Specimens must be collected in a sterile collection container.

Each specimen must be accompanied by a requisition form, script, electronic order or physician note. Each order must indicate the reason for testing (diagnosis).

• Transport to the laboratory at room temperature.
• Store specimen as whole blood, in original tube, at room temperature and deliver to lab within 24 hours.
• If specimen cannot be delivered within 24 hours, store in refrigerator. Do not freeze specimen.
• Specimens collected on the weekends must be refrigerated upon arrival at HNL Lab Medicine.

• Specimen frozen
• Specimen arriving without any form of patient identification (unlabeled)
• Specimen with attached needles
• Specimen arriving with broken or leaking collection tube
• Unfixed specimen treated with fixative

In a normal cell, the expected signal pattern is two red signals and two green signals. In an abnormal cell containing the deletion, the expected signal pattern is one red signal and two green signals.

• FISH Deletion 5q
• EGR1
• Del(5q)