Ordering Recommendation

Recommended reflex test to differentiate between Lynch syndrome and sporadic colorectal cancer in tumors showing loss of MLH1.

Mnemonic
BRAF RFLX
Methodology

Polymerase Chain Reaction/Pyrosequencing

Performed

DNA isolation: Sun-Sat
Assay: Mon, Wed, Fri

Reported

5-10 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

Tumor tissue. Also acceptable: DNA extracted by CLIA certified lab with corresponding client-circled H&E slide.

Specimen Preparation

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.

Storage/Transport Temperature

Room temperature. Also acceptable: Refrigerated. Ship in cooled container during summer months.
Extracted DNA: Refrigerated.

Unacceptable Conditions

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.

Remarks

Include surgical pathology report.

Stability

Ambient: Indefinitely; Refrigerated: Indefinitely; Frozen: Unacceptable
Extracted DNA: Ambient: 1 month; Refrigerated: Indefinitely; Frozen: Indefinitely

Reference Interval
Test Number
Components
Reference Interval
  BRAF codon 600 Mutation Detection By report
  MLH1 Promoter Methylation By report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

If BRAF codon 600 Mutation Detection is negative, then MLH1 Promoter Methylation will be added. Additional charges apply.

Hotline History
N/A
CPT Codes

88381; 81210; If reflexed, add 81288

Components
Component Test Code* Component Chart Name LOINC
0051751 BRAF codon 600 Mutation Detection
2002148 Block ID 57723-9
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • BRAF Gene Mutation Assay
  • EGFR targeted therapy
  • MLH1
  • sporadic Lynch Syndrome
  • V600E
BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation