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
Meet Makayla Gunn

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two.   At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words.  She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it.  Then she suddenly stopped all of that.  At her 2 year old check-up, the pediatrician referred us to BabyNet, ...

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