Invitae Familial Gastrointestinal Stromal Tumor Syndrome Panel
Use
This test analyzes genes associated with familial gastrointestinal stromal tumor syndrome (GIST), which is a rare hereditary gastrointestinal cancer predisposition syndrome. 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. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.
Special Instructions
The test involves next-generation sequencing to cover clinically important regions of each gene, including coding exons and select non-coding variants. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.
Limitations
The analysis does not cover structural rearrangements, variants embedded in complex architectures, or certain non-coding regions unless explicitly stated. In rare situations, single-exon copy number events may not be analyzed. Variants such as mosaicism, phasing, or mapping ambiguity might not be fully resolved. This assay is not suitable for detecting somatic mutations.
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)