Associated disorders

The CDKN2A gene is associated with autosomal dominant hereditary melanoma-pancreatic cancer syndrome (MedGen UID: 325450).

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CDKN2A: Analysis supports interpretation of the p16 protein only

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Invitae tests that include this gene:

The gene CDKN2A is a tumor-suppressor gene. This gene generates several alternative transcripts that encode proteins that regulate cell cycle control genes p53 and RB1. Alternative transcripts of CDKN2A produce two major proteins: p14, which is a stabilizer of the tumor-suppressor protein p53, and p16, which regulates G1-phase exit by inhibiting the CDK4-mediated phosphorylation of the protein RB1.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
CDKN2A* NM_000077.4, NM_058195.3

*CDKN2A: Analysis supports interpretation of the p16 protein only