This is a second tier test and REQUIRES PERMISSION from ARUP's Genetic Counselor (800-242-2787, x2141) before ordering.
Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Within 14 days
Contact ARUP's genetic counselor at (800) 242-2787 extension 2141 prior to test submission for collection requirements.
Refer to report.
Laboratory Developed Test (LDT)
Available for MLH1, MSH2, MSH6 or PMS2 genes. For PMS2 testing, suspected deletions or duplications in exons 12-15 require sequencing to exclude pseudogene copy number variants. Additional charges apply.
MLH1 81294; MSH2 81297; MSH6 81300; PMS2 81319; if pseudogene analysis is performed add: 81479
|Component Test Code*||Component Chart Name||LOINC|
|2001729||HNPCC DD Specimen|
|2001730||HNPCC/Lynch Syndrome, MMR Gene|
|2001731||HNPCC Deletion/Duplication Interp|
- HNPCC MLH1 deletion/duplication assay
- HNPCC MSH2 deletion/duplication assay
- HNPCC MSH6 deletion/duplication assay
- HNPCC PMS2 deletion/duplication assay
- HNPCC deletion/duplication assay
- HNPCC/Lynch Syndrome (MLH1)
- HNPCC/Lynch Syndrome (MSH2)
- HNPCC/Lynch Syndrome (MSH6)
- HNPCC/Lynch Syndrome (PMS2)
- Lynch Syndrome/HNPCC