HNPCC/Lynch Syndrome Deletion/Duplication
Ordering Recommendation
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  
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Contact ARUP's genetic counselor at (800) 242-2787 extension 2141 prior to test submission for collection requirements.  
Specimen Preparation
Storage/Transport Temperature
Unacceptable Conditions
Reference Interval
Interpretive Data
Refer to report.

See Compliance Statement C:
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
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.
CPT Code(s)
For MLH1, 81294; for MSH2, 81297; for MSH6, 81300; for PMS2, 81319; if pseudogene analysis is performed, add: 81479
Component Test Code*Component Chart NameLOINC
2001729HNPCC DD Specimen 
2001730HNPCC/Lynch Syndrome, MMR Gene 
2001731HNPCC Deletion/Duplication Interp 
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • 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