HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication

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HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication : 0051737

Patient History for HNPCC/Lynch Syndrome Testing

Additional Technical Information

Mnemonic: PMS2 FGA

Ordering Recommendation:	Detect germline PMS2 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 (PMS2) Sequencing and Deletion/Duplication Characteristics of Lynch Syndrome: 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. Penetrance: Unknown for PMS2 mutations. Cause: Pathogenic germline MLH1, MSH2, MSH6, and PMS2 gene mutations. Gene tested: PMS2 Clinical Sensitivity: Less than 5 percent of Lynch syndrome cases are due to PMS2 mutations. Methodology: Bidirectional sequencing of PMS2 coding regions and intron-exon boundaries; multiplex ligation-dependent probe amplification (MLPA) to detect large PMS2 exonic deletions. Analytical Sensitivity & Specificity: 99 percent. Limitations: Rare diagnostic errors can occur due to primer and probe site mutations. Regulatory region mutations and deep intronic mutations will not be detected. Mutations in genes other than PMS2 are not evaluated. 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:	Suspected deletions or duplications in exons 12-15 require additional sequencing to exclude pseudogene copy number variants. Additional charges apply.
CPT Code(s):	81317, 81319 If pseudogene analysis is performed, add: 81479
Cross References:	Lynch Syndrome (HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication) , PMS2 (HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication)