Invitae Lynch Syndrome Panel
Use
The Invitae Lynch Syndrome Panel analyzes genes associated with Lynch syndrome and constitutional mismatch repair deficiency syndrome (CMMR-D). It is designed to confirm a clinical diagnosis, predict disease prognosis and progression, aid in early symptom detection, inform family planning and genetic counseling, and potentially promote enrollment in clinical trials. This test is aimed at identifying heritable germline mutations, not somatic mutations in tumor tissue.
Special Instructions
This test is not suitable for the detection of somatic mutations in tumor tissue. Please see the test definition on our website for coverage details, and contact client services for any questions regarding analysis limitations or variant coverage.
Limitations
The assay may not detect some variants, such as structural rearrangements or variants in regions with complex architectures. Single-exon copy number variants might also be missed due to sequence properties or data quality. Sequences in promoter and non-coding regions are generally not covered unless specified. Recent transfusions or bone marrow transplants may affect the results.
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)
