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
This test is New York DOH approved.
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.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

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.

Hotline History
CPT Codes

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
* 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
HNPCC/Lynch Syndrome Deletion/Duplication