VistaSeq® PMS2 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 PMS2-related Lynch syndrome.
Special Instructions
Not provided.
Limitations
Sequencing cannot detect variants in regions not covered by this analysis, including noncoding or deep intronic variants and may not reliably detect changes in repetitive elements, such as microsatellite repeats. It may not detect mosaic variants, inversions, or genomic rearrangements. The presence of pseudogenes like PMS2CL can interfere with detecting variants, complicating deletion/duplication analysis. Some genomic rearrangements, including certain translocations and partial exon rearrangements, may not be identified. The test does not determine exact breakpoints and is not intended for detecting somatic variants. Bone marrow transplantation may affect outcomes.
Methodology
NGS (Targeted)
Biomarkers
PMS2
Gene
LOINC Codes
- 79419-8 - PMS2 gene Del+Dup + Full Mut Anl Bld/T
- 31208-2 - Specimen source
- 56850-1 - Imp & review of lab results
- 62385-0 - Recommendation Patient Doc-Imp
- 79419-8 - PMS2 gene Del+Dup + Full Mut Anl Bld/T
- 49549-9 - Ref lab test method
- 75608-0 - Citation Ref Lab Test
- 72486-4 - Lab director name Provider
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 |
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