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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

Please click on the Lab Form link in the Forms Section to print and complete the Pediatric Oncology Test Requisition Form. Submission of a completed Test Requisition Form is required, and submission of informed consent form is recommended (but not required). 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.

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

Activating mutations at codon 600 of the BRAF gene, such as BRAF V600E mutation, 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.

Evaluating for the presence of activating BRAF mutation 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).

For questions and more information, please call (614) 722-2866.

Forms

Lab Form

CPT Code

  • 81210