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Synonyms
- Lynch Syndrome
Expected Turnaround Time
17 - 22 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Specimen Requirements
Specimen
Whole blood
Volume
7 mL
Minimum Volume
4 mL
Container
Lavender-top (EDTA) tube
Storage Instructions
Maintain specimen at room temperature.
Causes for Rejection
Container broken or leaking; container not labeled; improper anticoagulant
Test Details
Use
This test is intended for individuals who have had previous negative sequencing of the MSH2 gene and have not had previous deletion/duplication analysis or who have a family member with an identified large deletion or duplication of the MSH2 gene. If testing for a known family mutation, please submit a copy of the laboratory report from the index family member documenting the familial mutation.
Limitations
Copy number variations are assessed by multiple-ligation- probe amplification assay (MLPA) to detect gross deletions and duplications. Copy number analyses are designed to detect single exon, multi-exon, and full gene deletions or duplications. These analyses may not detect certain genomic rearrangements, such as translocations (balanced or unbalanced), inversions, or some partial exon rearrangements. This assay cannot determine exact breakpoints of deletions or duplications detected.
This test is not intended to detect somatic variants. Bone marrow transplantation may affect the outcome of these results. Please contact LabCorp to discuss testing options at 1-800-345-GENE.
This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).
Methodology
Multiplex ligation-dependent probe amplification (MLPA)
References
Evans JT, Vana J, Aronoff BL, Baker HW, Murphy GP. Management and survival of carcinoma of the colon: Results of a national survey of the American College of Surgeons. Ann Surg. 1978 Dec;188(6):716-720.736649
Hutter P, Wijnen J, Rey-Berthod C, et al. An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1.J Med Genet. 2002 May;39(5):323-327.12011148
Kohlmann W, Gruber SB. Lynch syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews®. 2004 Feb 5; Seattle, Wash: University of Washington;1993-2014. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1211/.20301390
Online Mendelian Inheritance in Man (OMIM™). Colorectal cancer, hereditary nonpolyposis, type 8; HNPCC8. Baltimore, Md: Johns Hopkins University. Available at: http://www.ncbi.nlm.nih.gov/omim/613244.
Online Mendelian Inheritance in Man (OMIM™). Lynch syndrome I. Baltimore, Md: Johns Hopkins University. Available at: http://www.ncbi.nlm.nih.gov/omim/120435.
Online Mendelian Inheritance in Man (OMIM™). MutL, E coli, homolog of, 1; MLH1. Baltimore, Md: Johns Hopkins University. Available at:http://www.ncbi.nlm.nih.gov/omim/120436.
Online Mendelian Inheritance in Man (OMIM™). MutS, E coli, homolog of, 2; MSH2. Baltimore, Md: Johns Hopkins University. Available at: http://www.ncbi.nlm.nih.gov/omim/609309.
Online Mendelian Inheritance in Man (OMIM™). Postmeiotic segregation increased, S cerevisiae, 2; PMS2. Baltimore, Md: Johns Hopkins University. Available at: http://www.ncbi.nlm.nih.gov/omim/600259.
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 511705 | MSH2 Deletion/Duplication | 511702 | Test Order Review | N/A | ||
| 511705 | MSH2 Deletion/Duplication | 511703 | Tracking | N/A |
| Reflex Table for Test Order Review | ||||||
|---|---|---|---|---|---|---|
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
| Reflex 1 | 511706 | MSH2 Deletion/Duplication | 511707 | Specimen Type | 31208-2 | |
| Reflex Table for Test Order Review | ||||||
|---|---|---|---|---|---|---|
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
| Reflex 1 | 511706 | MSH2 Deletion/Duplication | 511708 | Result | 79415-6 | |
| Reflex Table for Test Order Review | ||||||
|---|---|---|---|---|---|---|
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
| Reflex 1 | 511706 | MSH2 Deletion/Duplication | 511716 | Director Review | 72486-4 | |
| Reflex Table for Test Order Review | ||||||
|---|---|---|---|---|---|---|
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
| Reflex 1 | 511706 | MSH2 Deletion/Duplication | 512123 | 51967-8 | ||
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The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf