ARUP's Laboratory Test Directory
| 0051737: HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication |
![[ image for: Patient History for HNPCC/Lynch Syndrome]](icon_34.jpg){kind=icon} | Patient History for HNPCC/Lynch Syndrome |
| Test Mnemonic: PMS2 FGA | |
|
Methodology: Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed: Varies Reported: Within 35 days |
| Specimen Required: | |
|
Collect: One 3 mL lavender (EDTA), pink (K2EDTA) or yellow (ACD solution A or B).
Transport: 3 mL whole blood at 2-8°C. (Min: 1 mL) Pediatric Collection/Transport: 1 mL whole blood at 2-8°C. Stability: Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable |
|
| Interpretive Data: | |
|
Background information for HNPCC/Lynch Syndrome (PMS2) 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. Penetrance: 80 percent lifetime risk of colorectal cancer; 20-60 percent risk for endometrial cancer. Cause: 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. The breakpoints of large deletions/duplications will not be determined. Regulatory region mutations, deep intronic mutations and mutations in genes other than PMS2 will not be detected. PMS2 exons 3, 4, 13, 14 or 15 are not evaluated for deletions/duplications. Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com. Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory. |
| CPT Code(s): | |
|
Sequencing portion: 83891 Isolation; 83898 x18 Amplification; 83904 x15 Sequencing; 83909 Capillary electrophoresis; Deletion/Duplication: 83896 Nucleic Acid Probes; 83898 Amplification; 83914 Extension; 83909 Capillary electrophoresis; 83912 Interpretation and report. - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders. |