Invitae Constitutional Mismatch Repair-Deficiency Panel
Use
The Invitae Constitutional Mismatch Repair-Deficiency Panel analyzes genes associated with constitutional mismatch repair deficiency syndrome (CMMR-D) and Lynch syndrome. Genetic testing of these genes may help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, and promote enrollment in clinical trials. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.
Special Instructions
Preferred specimen is 3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA). Saliva, buccal swab, and gDNA are also accepted as alternate specimens. The test is performed in a CAP-accredited and CLIA-certified lab with full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology.
Limitations
The test achieves >99% analytical sensitivity and specificity for single nucleotide variants, as well as insertions and deletions <15bp in length, and exon-level deletions and duplications. Variants that fall outside these regions or certain types of variants, such as structural rearrangements or variants embedded in sequence with complex architecture, may not be detected. While the major clinically important regions are covered, sequence changes in promoter, non-coding exons, and other non-coding regions might not be captured unless explicitly included in the assay.
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)