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
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.
Ambient: Indefinitely; Refrigerated: Indefinitely; Frozen: Unacceptable
Extracted DNA: Ambient: 1 month; Refrigerated: Indefinitely; Frozen: Indefinitely
|BRAF codon 600 Mutation Detection||By report|
|MLH1 Promoter Methylation||By report|
Refer to report.
Laboratory Developed Test (LDT)
If BRAF codon 600 Mutation Detection is negative, then MLH1 Promoter Methylation will be added. Additional charges apply.
88381; 81210; If reflexed, add 81288
|Component Test Code*||Component Chart Name||LOINC|
|0051751||BRAF codon 600 Mutation Detection|
- BRAF Gene Mutation Assay
- EGFR targeted therapy
- sporadic Lynch Syndrome