VistaSeq® MLH1 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 MLH1-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. Sequencing may not detect mosaic variants, inversions, or other genomic rearrangements such as transposable element insertions. The method does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies. Copy number analyses may not detect certain genomic rearrangements, such as translocations (balanced or unbalanced), inversions, or some partial exon rearrangements. This assay cannot determine exact breakpoints of deletions or duplications. The presence of pseudogenes can interfere with the ability to detect variants in certain genes.
Methodology
NGS (Targeted)
Biomarkers
MLH1
Gene
LOINC Codes
- 92676-6 - MLH1 gene Del+Dup + Full Mut Anl Bld/T
- 31208-2 - Specimen source
- 92676-6 - MLH1 gene Del+Dup + Full Mut Anl Bld/T
- 56850-1 - Imp & review of lab results
- 62385-0 - Recommendation Patient Doc-Imp
- 55752-0 - Clinical info
- 49549-9 - Ref lab test method
- 75608-0 - Citation Ref Lab Test
- 72486-4 - Lab director name Provider
- 51969-4 - Gene analysis narr rpt Doc
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