HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication
0051656
Ordering Recommendation
Detect germline MSH6 mutations. Use in MMR-deficient carcinoma with suggestive IHC (isolated loss of MSH6 protein).
Mnemonic
MSH6 FGA
Methodology
Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 35 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
  
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.  
Unacceptable Conditions
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
   
Interpretive Data
Background Information forHNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication:
Characteristics:
Increased risk of colorectal and extra-colonic cancers including endometrial, renal pelvis, ureter, ovary, stomach, small intestine, and hepatobiliary tract.
Incidence:
1-2 percent of colorectal cancer is due to mismatch repair gene mutations.
Inheritance:
Autosomal dominant
Penetranceof MSH6 Mutations:
Risk of colorectal cancer is 40 percent in men and 20 percent in women up to age 80. Women also have a 40 percent risk for endometrial cancer up to age 80.
Cause:
Pathogenic germline MLH1, MSH2, MSH6, and PMS2 gene mutations.
Gene Tested:
MSH6
Clinical Sensitivity:
Approximately 5 percent of Lynch syndrome is due to MSH6 mutations.
Methodology:
Bidirectional sequencing of MSH6 coding regions and intron-exon boundaries; multiplex ligation-dependent probe amplification (MLPA) to detect large MSH6 exonic deletions.
Test Limitations:
Diagnostic errors can occur due to rare sequence variations. The breakpoints of large deletions/duplications will not be determined. Regulatory region, deep intronic mutations and mutations in genes other than MSH6 will not be detected.

This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.



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
 
CPT Code(s)
81298, 81300
Components
Component Test Code*Component Chart Name
0051657Lynch Syndrome (MSH6) Interpretation
2001368MSH6 FGA Specimen
* 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
  • hMSH6 genotyping
  • HMSH6 germline assay
  • HNPCC
  • MSH6 Full Gene Analysis (HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication)
  • MSH6 gene testing