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Laboratory Test Directory

BRAF V600 Mutation Analysis

Components

Name Method Department Units
BRAF V600 Mutation Analysis DNA extraction
Polymerase chain reaction (PCR)
Sanger sequencing
Molecular Genetics

Specimen Requirements

Tissue (Fresh)

Container Type Container Size Specimen Volume
Preferred

Tissue culture transport media

N/A 5mm x 5mm or larger
Alternate

Ringer's lactate solution in sterile container

N/A 5mm x 5mm or larger
Alternate

Sterile container with saline

N/A 5mm x 5mm or larger
Stability

Room temperature - 24 hour(s)
Refrigerated - 48 hour(s)

Specimen Preparation

  • Keep at room temperature or refrigerate
  • Transport to laboratory as soon as possible
  • Do not add fixative
  • Wrap specimen container tightly with parafilm
  • Tumor sample must contain a minimum of 40% tumor

Paraffin embedded tissue

Container Type Container Size Specimen Volume
Preferred

Paraffin block

N/A 5mm x 5mm or larger
Stability

Room temperature - 6 month(s)

Specimen Preparation

  • Keep at room temperature
  • Protect from heat
  • Tumor sample must contain a minimum of 40% tumor

Tissue (Snap-frozen)

Container Type Container Size Specimen Volume
Preferred

Tissue cassette

N/A 5mm x 5mm or larger
Alternate

Cryogenic tube

N/A 5mm x 5mm or larger
Stability

Frozen - 12 month(s)

Specimen Preparation

  • Keep frozen
  • Freeze immediately after collection.
  • Protect from heat
  • Tumor sample must contain a minimum of 40% tumor
  • Transport to the lab immediately after collection

Tissue scrolls (FFPE)

Container Type Container Size Specimen Volume
Preferred

Sterile container

N/A 10 scrolls
Stability

Room temperature - 6 month(s)

Specimen Preparation

  • Tumor sample must contain a minimum of 40% tumor
  • Must accompany H&E slide from the same tissue block used to make FFPE scrolls

Tissue scrolls (OCT)

Container Type Container Size Specimen Volume
Preferred

Cryogenic tube

N/A 10 scrolls
Stability

Frozen - 12 month(s)

Specimen Preparation

  • Keep frozen
  • Immediately place on dry ice and transport frozen
  • Protect from heat
  • Transport to laboratory as soon as possible
  • Tumor sample must contain a minimum of 40% tumor
  • Must accompany H&E slide from the same OCT-embedded tissue used to make OCT tissue scrolls

OCT-embedded tissue

Container Type Container Size Specimen Volume
Preferred

Tissue cassette

N/A 5mm x 5mm or larger
Alternate

Cryogenic tube

N/A 5mm x 5mm or larger
Stability

Frozen - 12 month(s)

Specimen Preparation

  • Freeze immediately after collection.
  • Keep frozen
  • Protect from heat
  • Transport to laboratory as soon as possible
  • Tumor sample must contain a minimum of 40% tumor

Reasons for Rejection

  • Wrong type of specimen
  • Tissue degradation
  • Delayed or improper handling
  • Inadequate tissue
  • Insufficient tumor content in tumor sample

Comments

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Oncology Genetic Test Requisition Form is required; please click on the Lab Form link at the bottom of this page to access the form. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic. Tumor specimen containing a minimum of 40% tumor content is required for this testing. Internal pathology review by Nationwide Children's Laboratory pathologist will be performed on submitted tumor specimen to assess the tumor content in submitted tumor specimen. For questions, please call (614) 722-3280.

If submitting tissue scroll specimen, please use this Tissue Scroll Calculator tool to determine the thickness and number of tissue scrolls to send to the laboratory.

This test is a targeted Sanger sequence analysis of exon 15 of the BRAF gene performed on tumor specimen. This test detects activating variants (mutations) at codon 600 of the BRAF gene, including the V600E, V600K, and V600R variants.

Activating variants at codon 600 of the BRAF gene, such as BRAF V600E variant, have been observed in various tumors, including low grade pediatric gliomas in pediatric patients (e.g. gangliogliomas, pleiomorphic xanthroastrocytomas, diffusely infiltrative astrocytomas) and a subset of high grade gliomas, melanomas, colon cancers, ovarian cancers, endometrial cancers, thyroid cancers, and hairly cell leukemia. Samples from these various tumor types can be accepted for this testing.

Evaluating for the presence of activating BRAF variant at codon 600 can help assess responsiveness to BRAF inhibitors, resistance to anti-EGFR therapy, prognosis of certain cancers, and provides additional diagnostic information for individuals suspected of having Lynch syndrome/HNPCC (hereditary nonpolyposis colorectal cancer).

Forms

Lab Form

CPT Code

  • 81210