VistaSeq® MSH6 Comprehensive Analysis
Also known as: Familial Cancer testing, Hereditary Cancer testing, Inherited Cancer testing
Use
This assay is intended for patients with a personal or family history consistent with MSH6-related Lynch syndrome.
Special Instructions
Not provided.
Limitations
Sequencing cannot detect variants not covered by this analysis, including noncoding or deep intronic variants, and may not reliably detect changes in repetitive elements like microsatellite repeats. It may not detect mosaic variants, inversions, or other genomic rearrangements such as transposable element insertions. Sequence analysis may also be affected by allele drop-out due to a rare variant under a primer site or homopolymeric regions. This assay may not detect certain genomic rearrangements such as translocations, inversions, or some partial exon rearrangements. The presence of pseudogenes can interfere with variant detection in genes like PMS2. This test is not intended to detect somatic variants. Bone marrow transplantation may affect results.
Methodology
NGS (Targeted)
Biomarkers
MSH6
Gene
LOINC Codes
- 38921-3 - MSH6 gene Mut Anl Bld/T
- 31208-2 - Specimen source
- 56850-1 - Imp & review of lab results
- 62385-0 - Recommendation Patient Doc-Imp
- 55752-0 - Clinical info
- 51969-4 - Gene analysis narr rpt Doc
- 38921-3 - MSH6 gene Mut Anl Bld/T
- 49549-9 - Ref lab test method
- 72486-4 - Lab director name Provider
- 75608-0 - Citation Ref Lab Test
Result Turnaround Time
20-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
10 mL
Minimum Volume
7 mL
Container
Lavender-top (EDTA) tube or yellow-top (ACD) tube
Collection Instructions
Blood is collected by routine phlebotomy.
Storage Instructions
Room temperature or refrigerated
Causes for Rejection
Frozen specimen; leaking tube; clotted specimen; grossly or hemolyzed specimen; quantity not sufficient for analysis; incorrect anticoagulant.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 60 days |
| Refrigerated | 60 days |
| Frozen | N/A |
Other tests from different labs that may be relevant