Invitae Hereditary Juvenile Polyposis Syndrome Panel
Use
This test analyzes the BMPR1A and SMAD4 genes, which are associated with juvenile polyposis syndrome (JPS). This condition results in the development of gastrointestinal polyps that may become cancerous. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives.
Special Instructions
The test is designed for heritable germline mutations and is not appropriate for detecting somatic mutations in tumor tissue. It involves full-gene sequencing and deletion/duplication analysis using NGS technology. Variants outside clinically important regions are not analyzed.
Limitations
The assay achieves >99% sensitivity/specificity for single nucleotide variants, insertions, and deletions <15bp, and exon-level deletions/duplications. Limitations include marginally reduced sensitivity for longer insertions/deletions, inability to detect some structural variants or resolve mosaicism, and exclusion of certain non-coding regions unless specified.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)