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Test Code LYNCH Lynch Syndrome Panel, Varies

Useful For

Establishing a diagnosis of Lynch syndrome

 

Identification of familial MLH1, MSH2, MSH6, PMS2, or EPCAM mutations to allow for predictive testing in family members

Method Name

Custom Sequence Capture and Targeted Next Generation Sequencing Followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing and Gene Dosage Analysis by Array Comparative Genomic Hybridization (aCGH) or Multiplex Ligation-Dependent Probe Amplification (MLPA)

Reporting Name

Lynch Syndrome Panel

Specimen Type

Varies


Shipping Instructions


Specimen should arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Additional Information:

1. To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.

2. Prior Authorization is available for this assay; see Special Instructions. Submit the required form with the specimen.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reject Due To

All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly; Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81292-MLH1

81295-MSH2

81298-MSH6

81317-PMS2

81319-PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants

81403-EPCAM

81228-Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (eg, bacterial artificial chromosome [BAC] or oligo-based comparative genomic hybridization [CGH] microarray analysis)

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
LYNCH Lynch Syndrome Panel In Process

 

Result ID Test Result Name Result LOINC Value
37830 Result Summary 50397-9
37831 Result 82939-0
37832 Interpretation 69047-9
37833 Additional Information 48767-8
37834 Specimen 31208-2
37835 Source 31208-2
37836 Released By 18771-6

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Lynch Syndrome Panel (LYNCH) Prior Authorization Ordering Instructions in Special Instructions

3. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519) in Special Instructions

4. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-Oncology Test Request (T729)

-Gastroenterology and Hepatology Client Test Request (T728)

Testing Algorithm

See Lynch Syndrome Testing Algorithm in Special Instructions.