ARUP's Laboratory Test Directory

HNPCC/Lynch Syndrome Deletion/Duplication : 2001728
[ image for: Patient History for HNPCC/Lynch Syndrome Testing]
Patient History for HNPCC/Lynch Syndrome Testing
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Additional Technical Information


Mnemonic: HNPCC DD

Ordering Recommendation: Detect an MMR gene (MLH1, MSH2, MSH6, or PMS2) deletion/duplication.
Methodology: Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Performed: Varies
Reported: Within 14 days
Specimen Required: Collect: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature: Refrigerated.

Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Interpretive Data: Refer to report.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
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): For MLH1, 81294; for MSH2, 81297; for MSH6, 81300; for PMS2, 81319; if pseudogene analysis is performed, add: 81479
Cross References: HNPCC/Lynch Syndrome (MLH1) (HNPCC/Lynch Syndrome Deletion/Duplication) , HNPCC/Lynch Syndrome (MSH2) (HNPCC/Lynch Syndrome Deletion/Duplication) , HNPCC/Lynch Syndrome (MSH6) (HNPCC/Lynch Syndrome Deletion/Duplication) , HNPCC/Lynch Syndrome (PMS2) (HNPCC/Lynch Syndrome Deletion/Duplication) , Lynch Syndrome/HNPCC (HNPCC/Lynch Syndrome Deletion/Duplication)