Recommended reflex test to differentiate between Lynch syndrome and sporadic colorectal cancer in tumors showing loss of MLH1.
Polymerase Chain Reaction/Pyrosequencing
DNA isolation: Sun-Sat
Assay: Mon, Wed, Fri
5-10 days
Tumor tissue. Also acceptable: DNA extracted by CLIA certified lab with corresponding client-circled H&E slide.
Tumor Tissue: Formalin fix (10 percent neutral buffered formalin) and paraffin embed tissue. Protect from excessive heat. Tissue block will be returned after testing. Transport tissue block or 5 unstained 5 micron slides. (Min: 3 slides). Transport block and/or slide(s) in a tissue transport kit (ARUP Supply # 47808) available online through eSupply using ARUP Connect™or contact ARUP Client Services at (800) 522-2787.
Extracted DNA: Transport 40 uL DNA with at least 50 ng/uL concentration. (Min: 40 uL) Transport DNA in a tissue transport kit (ARUP Supply #47808) available online through eSupply using ARUP Connect™ or contact ARUP Client Services at (800) 522-2787.
Room temperature. Also acceptable: Refrigerated. Ship in cooled container during summer months.
Extracted DNA: Refrigerated.
Less than 25 percent tumor. DNA extracted by a non-CLIA lab. DNA extracted without a corresponding circled H&E slide. Specimens fixed/processed in alternative fixatives (alcohol, Prefer) or heavy metal fixatives (B-4 or B-5). Decalcified specimens.
Include surgical pathology report.
If multiple specimens (blocks or slides) are sent to ARUP, they must be accompanied by one of the following: an order comment indicating that the ARUP pathologist should choose the specimen most appropriate for testing (e.g., "Choose best block"), or individual orders for each sample submitted. A Pathologist Block Selection Fee (ARUP test code 3002076) will be added to orders that utilize the first option. If multiple specimens are sent to ARUP without a request for pathologist block/slide selection or individual orders, they will be held until clarification is provided.
Ambient: Indefinitely; Refrigerated: Indefinitely; Frozen: Unacceptable
Extracted DNA: Ambient: 1 month; Refrigerated: Indefinitely; Frozen: Indefinitely
Test Number |
Components |
Reference Interval |
---|---|---|
BRAF codon 600 Mutation Detection | By report | |
MLH1 Promoter Methylation | By report |
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Laboratory Developed Test (LDT)
If BRAF codon 600 Mutation Detection is negative, then MLH1 Promoter Methylation will be added. Additional charges apply.
Hotline History
88381; 81210; If reflexed, add 81288
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
0051751 | BRAF codon 600 Mutation Detection | |
2002148 | Block ID | 57723-9 |
- BRAF Gene Mutation Assay
- EGFR targeted therapy
- MLH1
- sporadic Lynch Syndrome
- V600E