HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication

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ARUP's Laboratory Test Directory

HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication : 0051656

Patient History for HNPCC/Lynch Syndrome Testing

Additional Technical Information

Mnemonic: MSH6 FGA

Ordering Recommendation:	Detect germline MSH6 mutations, diagnostic for Lynch syndrome.
Methodology:	Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed:	Varies
Reported:	Within 35 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:	Background Information for *HNPCC/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: Rare diagnostic errors can occur due to primer and probe site mutations. 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
CPT Code(s):	81298, 81300
Cross References:	HNPCC/Lynch Syndrome (MSH6) (HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication) , Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication (HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication) , MSH6 Sequencing and Deletion/Duplication (HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication) , MSH6 Full Gene Analysis (HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication)