MSH2 Deletion/Duplication Analysis

CPT: 81297
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Synonyms

  • Lynch Syndrome

Expected Turnaround Time

17 - 22 days


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 PDF 51967-8

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