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HNPCC/Lynch Syndrome Deletion/Duplication
2001728
Ordering Recommendation

This is a second tier test and REQUIRES PERMISSION from  ARUP's Genetic Counselor (800-242-2787, x2141) before ordering.

Mnemonic
HNPCC DD
Methodology
Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 14 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
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
 
Remarks
 
Stability
 
Reference Interval
Interpretive Data
Refer to report.

Compliance 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.

Note
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)
MLH1 81294; MSH2 81297; MSH6 81300; PMS2 81319; if pseudogene analysis is performed add: 81479
Components
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.
Aliases
  • 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