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MLH1 Deletion/Duplication Analysis

Test Number 511690
Test number copied
CPT Contact CPT coding department at 800-222-7566, ext 6-8400.
Synonyms
  • Lynch Syndrome

Test Details

Methodology

Multiplex ligation-dependent probe amplification (MLPA)

Result Turnaround Time

17 - 21 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.

Use

This test is intended for individuals who have had previous negative sequencing of the MLH1 gene and have not had previous deletion/duplication analysis or who have a family member with an identified large deletion or duplication of the MLH1 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 rarrangements, 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).

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

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
511690 MLH1 Deletion/Duplication 511691 Test Order Review N/A
511690 MLH1 Deletion/Duplication 511692 Tracking N/A
Order Code511690
Order Code NameMLH1 Deletion/Duplication
Order Loinc
Result Code511691
Result Code NameTest Order Review
UofM
Result LOINCN/A
Order Code511690
Order Code NameMLH1 Deletion/Duplication
Order Loinc
Result Code511692
Result Code NameTracking
UofM
Result LOINCN/A
Reflex Table for Test Order Review
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511695 MLH1 Deletion/Duplication 511694 Specimen Type 31208-2
Reflex 1
Order Code511695
Order NameMLH1 Deletion/Duplication
Result Code511694
Result NameSpecimen Type
UofM
Result LOINC31208-2
Reflex Table for Test Order Review
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511695 MLH1 Deletion/Duplication 511688 Result 79416-4
Reflex 1
Order Code511695
Order NameMLH1 Deletion/Duplication
Result Code511688
Result NameResult
UofM
Result LOINC79416-4
Reflex Table for Test Order Review
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511695 MLH1 Deletion/Duplication 511689 Director Review 72486-4
Reflex 1
Order Code511695
Order NameMLH1 Deletion/Duplication
Result Code511689
Result NameDirector Review
UofM
Result LOINC72486-4
Reflex Table for Test Order Review
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511695 MLH1 Deletion/Duplication 512123 PDF 11502-2
Reflex 1
Order Code511695
Order NameMLH1 Deletion/Duplication
Result Code512123
Result NamePDF
UofM
Result LOINC11502-2