Brain Tumor : IDH1 R132H Variant Analysis

Test Information

Mutations in IDH1 are frequently seen (approximately 70%) in grade II and grade III gliomas as well as secondary GBM while it is much less common (<5%) in primary gbm. nearly 90% of reported mutations occur at the active site and involve substitution for arginine at position 132 (r132). it should also be noted that idh1 mutant gliomas have higher instance of tp53 mutation and chromosome 19q loss when compared to idh1 wild-type gliomas as well as lower instances of pten, egfr, and alterations.>

Turnaround Time

5 days

CPT Code(s)

81403

Cost

$350

Genes

Disorders

Clinical Information

IDH1-mutant gliomas tend to occur at younger age and have a better prognosis than those wild-type for IDH1. Additionally, presence of IDH1 mutation is reported to be a better predictor of outcome than histological grade. These findings have led to the development of inhibitors targeting the IDH1 mutant protein, which are currently in phase 1 trials (NCT02073994 & NCT02273739) (Neuro-Oncology (2016) 18(1): 16-26).

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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