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NUP98 Rearrangement (11p15)
- FISH
Clinical Significance
Fusions of the nucleoporin 98 (NUP98) gene with more than 30 partner genes are noted in a variety of hematologic malignancies including AML, MDS, and T-ALL. Recurring NUP98 fusions, such as NUP98-NSD1, NUP98-JARID1A, and NUP98-HOXA9, have been reported in pediatric and adult cytogenetically normal AML (CN-AML) and some have been associated with poor prognosis.
Detection of NUP98 rearrangement may be useful to further classify prognostic risk in AML and guide therapy selection. Screening for NUP98 rearrangement in pediatric AML patients at the time of diagnosis has been suggested. This NUP98 break-apart FISH test is designed to detect NUP98 rearrangements with potentially any known or novel translocation partner.
Specimen Requirements
Bone Marrow Aspirate: 1-2 mL in sodium heparin tube. EDTA tube is acceptable.
Peripheral Blood: 2-5 mL in sodium heparin tube. EDTA tube is acceptable.
Fresh, Unfixed Tissue: Tissue in RPMI.
Fluids: Mix in equal parts with RPMI (specimen volume to RPMI ratio of 1:1).
Storage and Transportation
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. For fresh samples: refrigerate before shipping and ship same day as drawn whenever possible. Do not freeze. NYS clients please provide date and time of Collection.
CPT Code(s)*
88377x1 manual or 88374x1 automated
*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.
Last Updated: August 27, 2025