Juvenile Polyposis Panel (BMPR1A, SMAD4)
Also known as: Hamartomatous Polyp, Juvenile Polyp
Use
This test is used to identify individuals with juvenile polyposis syndrome (JPS) by detecting single‑nucleotide variants, deletions, and duplications in the BMPR1A and SMAD4 genes, which encode the BMPR1A and SMAD4 proteins, respectively. It is generally indicated for individuals with a personal history of juvenile gastrointestinal polyps or a family history of JPS, with informed consent following genetic counseling strongly recommended. A positive result indicates a pathogenic or likely pathogenic variant in BMPR1A or SMAD4, suggesting a diagnosis of JPS and autosomal dominant inheritance risk; a negative result does not exclude JPS, and variant of uncertain significance (VUS) results require interpretation in clinical context.
Special Instructions
Sample reports and information on variants analyzed for each gene are available at QuestHereditaryCancer.com. Clinicians are encouraged to involve genetic counselors and may contact Quest Genomics Client Services at 1.866.GENE.INFO. Shared decision‑making with consideration of age, medical status and readiness for genetic information is advised.
Limitations
The test is limited to BMPR1A and SMAD4 and does not analyze other hereditary cancer genes or gene regions; thus, not all hereditary predisposition causes are detected. Rare or novel variants may remain unclear, and false positives or negatives, although rare, can occur. Results should be interpreted in context of clinical and familial history; additional testing may be warranted. Variant interpretation is subject to change; users should check Quest’s VariantIQ for updates.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided