Cautions

This test cannot differentiate between somatic mutations and germline alterations. Additional testing may be necessary to clarify the significance of results if there is a potential hereditary risk.

Variants of uncertain significance may be identified.

A negative result does not rule out the presence of a variant or fusion that may be present below the limits of detection of this assay. The analytical sensitivity of this assay for sequence reportable alterations is 5% mutant allele frequency with a minimum coverage of 500X in a sample with 20% or more tumor content. The analytical sensitivity for fusions is a minimum coverage of 10 targeted fusion reads with 5 unique fusion molecules in a sample with 10% or greater tumor content.

Point mutations and small insertion/deletion mutations will be detected in 89 genes. This test may detect single exon deletions but does not detect multi-exon deletions, duplications, or genomic copy number variants in any of the genes tested. Deletions-insertions (delins) of 1000 base pairs or less are detectable with at least 50 supporting reads.

This test cannot reliably determine if a variant identified in PMS2 exons 11-15 originated from PMS2 or the highly homologous pseudogene PMS2CL. In the instance that a reportable variant is detected in PMS2 exons 11-15, additional testing will be recommended in the patient report.

RNA is particularly labile and degrades quickly. Rapid preservation of the tumor sample after collection reduces the likelihood of degradation, but there are sometimes biological factors, such as tumor necrosis that interfere with obtaining a high-quality RNA specimen despite rapid preservation.

This panel can detect in-frame and out-of-frame fusions. There may be lower sensitivity in detecting out-of-frame fusions, such as exon-intron, intron-intron, or big insertions. This assay will only detect fusions involving at least one gene in the defined gene fusion target list of interest.

The presence or absence of a variant may not be predictive of response to therapy in all patients.

Rare alterations (ie, polymorphisms) may be present that could lead to false-negative or false-positive results.

Test results should be interpreted in the context of clinical, tumor sampling, histopathological, and other laboratory data. If results obtained do not match other clinical or laboratory findings, contact the laboratory for discussion. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.

Reliable results are dependent on adequate specimen collection and processing. This test has been validated on formalin-fixed, paraffin-embedded tissues; other fixatives are discouraged. Improper treatment of tissues, such as decalcification, may cause polymerase chain reaction failure.

Genes may be added or removed based on updated clinical relevance. Refer to the Targeted DNA Gene Regions Interrogated by Neuro-Oncology Panel for the most up to date list of genes included in this test.