MSH6 Deletion/Duplication Analysis
Also known as: Lynch Syndrome
Use
This test is intended for individuals who have had previous negative sequencing of the MSH6 gene and have not had previous deletion/duplication analysis or who have a family member with an identified large deletion or duplication of the MSH6 gene. If testing for a known family mutation, please submit a copy of the laboratory report from the index family member documenting the familial mutation.
Special Instructions
Not provided.
Limitations
The assay is not designed to detect certain genomic rearrangements such as translocations (balanced or unbalanced), inversions, or some partial exon rearrangements. It cannot determine the exact breakpoints of detected deletions or duplications. This test is not intended to detect somatic variants. Results can be affected by bone marrow transplantation. For questions on testing options, contact LabCorp at 1-800-345-GENE.
Methodology
Other
Biomarkers
MSH6
Gene
LOINC Codes
- 31208-2 - Specimen source
- 79414-9 - MSH6 gene Del+Dup Bld/T MLPA
- 72486-4 - Lab director name Provider
- 11502-2 - Laboratory report
Result Turnaround Time
17-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
7 mL
Minimum Volume
4 mL
Container
Lavender-top (EDTA) tube
Storage Instructions
Maintain specimen at room temperature.
Causes for Rejection
Container broken or leaking; container not labeled; improper anticoagulant
Other tests from different labs that may be relevant