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Test Description

Probes: CDKN2A (p16) (9p21) | Centromere 9
Disease(s): Acute Lymphoblastic Leukemia (ALL)

Clinical Significance

Loss of the CDKN2A 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 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 sodium heparin tube. EDTA tube is acceptable.
  • Peripheral Blood: 2-5 mL sodium heparin tube. EDTA tube is acceptable..
  • Fresh, Unfixed Tissue: Tissue in RPMI.
  • Fluids: Equal parts RPMI to specimen volume.
  • Paraffin Block or Cut Slides: Not available.
  • Note: Please exclude biopsy needles, blades, and other foreign objects from transport tubes. These can compromise specimen viability and yield, and create hazards for employees.
Storage and Transportation

Refrigerate specimen. Do not freeze. Use cold pack for transport, making sure cold pack is not in direct contact with specimen.

CPT Code(s)*
88377x1 manual or 88374x1 automated
Turnaround Time

3-5 days

  1. Braun M, Pastorczak A, Fender W, et al. Biallelic loss of CDKN2A is associated with poor response to treatment in pediatric acute lymphoblastic leukemia. Leuk Lymphoma. 2017;58:1162-1171.
  2. Messina M, Chiaretti S, Fedullo AL, et al. Clinical significance of recurrent copy number aberrations in B-lineage acute lymphoblasticleukaemia without recurrent fusion genes across age cohorts. Brit J Haematol. 2017;178(4):583-587.
  3. Ribera J, Zamora L, Montesinos P, et al. Prognostic significance of copy number alterations in adolescent and adult patients with precursor B acute lymphoblastic leukemia enrolled in PETHEMA protocols. Cancer. 2015;121:3809-3817.
New York Approved
Level of Service

*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.