CDKN2A Sequencing and Deletion/Duplication
Also known as: FAMMM, p14, p16
Use
This test is used to identify individuals with familial atypical multiple mole melanoma (FAMMM) syndrome by analyzing single‑nucleotide variants, deletions, and duplications in the CDKN2A gene. It may be indicated for individuals with a personal or family history of melanoma (especially multiple or early‑onset) or pancreatic cancer. Informed consent following genetic counseling is strongly recommended, and testing the youngest affected family member is preferable.
Special Instructions
Not provided.
Limitations
A negative result means no pathogenic or likely pathogenic variants were detected in CDKN2A, but risk interpretation depends on personal and family history and, in some cases, affected family members should be tested. A positive result indicates a pathogenic or likely pathogenic variant but does not equate to a cancer diagnosis. Variant classification and interpretation are subject to change over time; variant of uncertain significance (VUS) results require clinical context and possibly family studies, and annual re‑classification updates are advised. Variant analysis specifics are available in the methods and limitations section of the genetic testing report.
Methodology
NGS (Targeted)
Biomarkers
CDKN2A
Gene
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided