PMS2 Deletion/Duplication Analysis
Also known as: Lynch Syndrome
Use
This test is intended for individuals who have had previous negative sequencing of the PMS2 gene and have not had previous deletion/duplication analysis or who have a family member with an identified large deletion or duplication of the PMS2 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
This test may not detect certain genomic rearrangements, such as translocations (balanced or unbalanced), inversions, or some partial exon rearrangements. The assay cannot determine exact breakpoints of deletions or duplications. The presence of pseudogenes can interfere with the detection of variants in genes like PMS2. Deletions/duplications in PMS2CL have not been associated with Lynch syndrome, but this assay may not determine if a deletion/duplication affects PMS2 or PMS2CL.
Methodology
Other
Biomarkers
No genes
Gene
LOINC Codes
- 31208-2 - Specimen source
- 79417-2 - PMS2 gene Del+Dup Bld/T MLPA
- 72486-4 - Lab director name Provider
- 11502-2 - Laboratory report
Result Turnaround Time
14-21 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