Invitae Hereditary Sarcoma Panel
Use
The Invitae Hereditary Sarcoma Panel is designed to analyze genes associated with a predisposition to developing sarcomas, which are connective tissue or bone tumors. By testing for multiple genes, this panel helps in confirming clinical diagnoses, predicting disease progression, and supporting family planning and genetic counseling. It also aids in enrollment to clinical trials and facilitating early detection of symptoms. Given the genetic heterogeneity of sarcomas, broad testing helps in evaluating several potential genes based on clinical indications.
Special Instructions
This test is intended for analyzing heritable germline mutations, not somatic mutations in tumor tissue. Genetic heterogeneity makes it challenging to use phenotype alone to determine the cause, making this broad panel crucial for thorough evaluation. Some genes on this test may be associated with unrelated disorders not included here.
Limitations
The assay targets clinically important regions, including coding exons and some intronic sequences. Structural rearrangements, detailed sequence characteristics, and non-coding variants outside specified regions are generally not analyzed. While the test achieves high analytical sensitivity and specificity, certain variants like structural rearrangements or mosaicism may not be detected. Limitations due to sequence properties or data quality are possible, and some sequence details may remain unresolved.
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)