Juvenile Polyposis Panel (BMPR1A and SMAD4)

This test is used to identify individuals with juvenile polyposis syndrome (JPS). It detects single-nucleotide variants, deletions, and duplications in the BMPR1A and SMAD4 genes, which encode the BMPR1A, and SMAD4 proteins, respectively.

Sample reports and information regarding the specific variants analyzed for each gene are available on our website QuestHereditaryCancer.com.

If a familial mutation has been detected by sequencing or deletion/duplication studies, the Hereditary Cancer Single Site(s) test (test code 93945) may be considered. Official test results of the family member must be available for laboratory review.

For more information, please visit our website QuestHereditaryCancer.com. To discuss a family history with a Quest Diagnostics genomic science specialist, please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463).

Generally, this test may be indicated for individuals with a personal history of juvenile polyps of the gastrointestinal tract or a family history of JPS.¹

Informed consent following genetic counseling is strongly recommended.

For more information or to discuss a family history with a Quest Diagnostics genomic science specialist, please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463).

The right time depends on the individual. An individual’s age, current medical status, personal experience with cancer, and general readiness for genetic information all influence the decision to be tested. Having an open dialogue with individuals about these topics can assist with shared decision-making.

Additionally, consider referring individuals to a clinical genetic counselor for a thorough review of the individual’s family history and discussion of testing options. Find a local genetic counselor by visiting FindAGeneticCounselor.com.

For most tests, results will be completed 14 to 21 days after receipt of the sample in the laboratory and completion of preauthorization. For tests with 12 or more genes, the turnaround time is 21 to 30 days.

Please note that an additional 7 to 10 days for confirmation of copy number variants (CNVs) by an orthogonal method if needed. Turnaround time may vary based on delays caused by incomplete orders or insurance authorizations.

Individuals with a positive result have a pathogenic or likely pathogenic variant detected in the BMPR1A or SMAD4 gene and a diagnosis of JPS.¹ A positive result does not mean that an individual has a diagnosis of polyps or will develop cancer. Pathogenic and likely pathogenic variants in BMPR1A and SMAD4 have an autosomal dominant pattern of inheritance, meaning that first-degree relatives have a 50% chance to also be positive for this result. Specific risk information will be provided in the result report. Visit the website QuestHereditaryCancer.com for more information.

The National Comprehensive Cancer Network (NCCN^®) provides up-to-date surveillance and management recommendations for individuals with a positive result.¹

A negative result means that a pathogenic or likely pathogenic variant was not detected in the BMPR1A or SMAD4 genes. For more information regarding specific genetic variants analyzed in this assay, please refer to the methods and limitations section of the genetic testing report. Clinical diagnostic criteria are available if an individual is still suspected of having a diagnosis of JPS in the context of a negative genetic testing result.²

A VUS result means that the variant has not been previously described in the literature or that the clinical significance is unclear based upon currently available evidence. Medical management decisions should be based on personal and family history. Family studies may help to learn more about the clinical significance of this variant.

The classification and interpretation of the variant(s) identified reflect the current state of Quest’s understanding at the time of the report. Variant classification and interpretation are subject to professional judgment and may change for a variety of reasons including, but not limited to, updates in classification guidelines and availability of additional scientific and clinical information.

It is important to check in with the laboratory annually for variant updates because new information regarding the variant and classification may become available over time.

Please visit QuestDiagnostics.com/VariantIQ for information about variant classification. For questions, please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) to speak with a genomic science specialist.