MLH1/MSH2/MSH6/PMS2/EPCAM Somatic Tumor Mismatch Repair Sequencing and Deletion/Duplication Test

TEST: 481472
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CPT: 81445; 88381
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Synonyms

  • EPCAM
  • Hereditary Nonpolyposis Colorectal Cancer
  • HNPCC
  • IMCAN Tumor
  • Mismatch Repair Somatic
  • MLH1
  • MSH2
  • MSH6
  • PMS2

Special Instructions

Testing referred to Impact Genetics, Ontario, Canada. Pathology report with MSI or IHC required. Please direct any questions regarding this test to 877-624-9769.

Expected Turnaround Time

21 - 28 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.

Related Information

Specimen Requirements

Specimen

Formalin fixed paraffin-embedded (FFPE) tissue and whole blood

Volume

Formalin fixed paraffin embedded (FFPE) block (preferred) or 19 serial unstained unbaked slides (5-10 microns thick) with 1 adjacent unstained unbaked slide (4 microns thick); Whole Blood: 8.5 mL

Minimum Volume

Whole blood: 4 mL

Container

Lavender-top (EDTA) tube, yellow-top (ACD) tube, blocks or slides

Collection

Whole blood samples must be received at Impact Genetics within five days of collection.

Storage Instructions

Room temperature. Whole blood is stable at room temperature for five days. Fixed tissue is stable indefinitely.

Causes for Rejection

Coagulated blood

Test Details

Use

Tumors with mismatch repair deficiency as determined by MSI or IHC are suspected for HNPCC, Lynch or Lynch-like syndrome. This test will assess the tumor for a pathogenic genetic variant which, if found, may be evaluated in blood to determine germline/hereditary status.

Limitations

This test was developed, and its performance characteristics determined, by Impact Genetics. It has not been cleared or approved by the US Food and Drug Administration (FDA).

Methodology

Next generation sequencing (NGS); Multiplex Ligation-Dependent Probe Amplification (MLPA); Sanger sequencing

References

Haraldsdottir S, Hampel H, Tomsic J, et al. Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. Gastroenterology. 2014 Dec;147(6):1308-1316.25194673

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
481472 Tumor MMR Seq and Del/Dup Test 481473 Routing 41103-3
Reflex Table for Routing
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 481511 Seq or Copy in MLH1 481511 Seq or Copy in MLH1 Not available
Reflex Table for Routing
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 481512 Seq or Copy in MSH2 481512 Seq or Copy in MSH2 Not available
Reflex Table for Routing
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 481513 Seq or Copy in blood MSH6 481513 Seq or Copy in blood MSH6 Not available
Reflex Table for Routing
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 481514 Seq or Copy in blood PMS2 481514 Seq or Copy in blood PMS2 Not available
Reflex Table for Routing
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 481515 Seq or Copy in blood EPCAM 481515 Seq or Copy in blood EPCAM Not available

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