XL CDKN2A/9q22

Deletion Probe

Order Number
Package Size
100 µl (10 Tests)


XL CDKN2A/9q22

The XL CDKN2A/9q22 locus-specific probe detects deletions in band 9p21. This probe is labeled in orange and hybridizes to CDKN2A (p16) as well as CDKN2B (p15). A green labeled probe hybridizes to a specific locus at 9q22 and functions as a reference probe.

Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale.

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Clinical Details

Acute lymphoblastic leukemia (ALL) is the most common childhood cancer type. T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive and quickly progressing type of ALL affecting T-lymphocytes. Inactivation of the tumor suppressor genes CDKN2A/2B, located at chromosomal region 9p21, is a significant event in the development of T-ALL and other cancer types. Principally, loss of function might happen by deletion, methylation of promotor regions or mutations, whereas deletion of chromosomal region 9p21 seems to be the predominant mechanism. CDKN2A/2B deletions can be detected in about 60% of pediatric and about 50% of adult T-ALL cases. Most deletions are within the resolution of the FISH technique. Genetic alterations of the 9p21 locus result in loss of regulation of the cell cycle which is critical to cancer development.

Clinical Applications

  • Acute Lymphoblastic Leukemia (ALL)
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XL CDKN2A/9q22

XL CDKN2A/9q22 hybridized to lymphocytes. Two normal interphases are shown.

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Expected Patterns

Expected Pattern 1

Normal Cell:
Two green (2G) and two orange (2O) signals.

Expected Pattern 2

Aberrant Cell (typical results):
Two green (2G) and one orange (1O) signal resulting from loss of one orange signal.

Expected Pattern 3

Aberrant Cell (typical results):
Two green (2G) and no orange (no O) signal resulting from homozygous deletion of the locus covered by the orange probe.

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  • Novara et al (2009) Human Genet 126:511-520
  • Sulong et al (2009) Blood 113:100-107
  • Girardi et al (2017) Blood 129:1113-1123