Use

This test is used to identify individuals with autosomal dominant Peutz‑Jeghers syndrome (PJS) by detecting single‑nucleotide variants, deletions, and duplications in the STK11 gene, which encodes the serine/threonine‑protein kinase STK11 protein. It may be appropriate for individuals presenting with multiple hamartomatous gastrointestinal polyps, mucocutaneous hyperpigmentation in areas such as the mouth, lips, nose, eyes, genitalia, or fingers, or a family history of PJS. Genetic counseling and informed consent are strongly recommended for appropriate clinical interpretation and patient management.