Brain Tumor : NF1 Deletion Analysis

Test Information

Turnaround Time

10 days

CPT Code(s)

81406

Cost

$1,000

Genes

Disorders

Clinical Information

NF1 Deletion: Individuals having neurofibromatosis type 1 (NF1), defined by the presence of a mutation in NF1, are at an increased risk for central nervous system tumors. Loss of the additional copy of NF1 is needed for transformation. In NF1, adult patients developing glioma tend to present with high-grade malignancy while pediatric cases are often low-grade. Additionally, mutations in TP53 and CDKN2A have been reported to occur with NF1 bi-allelic loss in aggressive, gliomas (Critical Reviews in Oncology/Hematology (2016) 104:30-41).

Indications

Gene sequencing and targeted mutation testing and copy number analysis can serve as a useful diagnostic and potentially prognostic tool for the analysis of affected tissues or tumors. The detection of copy number variants or specific gene mutations may enhance treatment decisions.

Specimen Requirements

Analysis can be performed on fresh or frozen tissue samples as well as formalin-fixed, paraffin-embedded tissue samples.

Transport Instructions

The specimen should be kept at the appropriate temperature and delivered via overnight shipping.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Oncology Testing, Targeted Variants
One Mother's Story

One Mother's Story

After a long three-year struggle trying to have children, our son, Charlie, was born on April 18, 2009. He was our miracle...perfect in every way! When Charlie was five days old, our pediatrician called to notify us that one of the numbers from the heel prick test was a bit high. We headed to the hospital that afternoon for more tests. I will never forget the following day. It was cool and crisp - not a cloud in the sky....

In The News