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CDKN2A/B (p16) Deletion FISH for ALL
- FISH
Clinical Significance
Loss of the CDKN2A/B gene (also called p16 or pINK4A) at 9p21 is frequently observed in acute lymphocytic leukemia (30-40% of cases) and requires a method more sensitive than cytogenetics (such as FISH) for reliable detection. CDKN2A/B gene deletion is associated with an adverse prognosis in pediatric, adolescent, and adult patients with B-cell ALL (B-cell precursor or BCP-ALL) due to increased risk for relapse, poor response to therapy, lower overall survival, and/or higher incidence of concurrent deletion of other genes. Reports vary whether the impact of heterozygous deletions is as severe as homozygous deletions.
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).
Fixed Cell Suspension: A client-prepared fixed cell suspension is acceptable if received in 3:1 Methanol:Glacial Acetic Acid.
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