NTRK Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Use
This test uses targeted next-generation sequencing to evaluate for somatic mutations within the NTRK1, NTRK2, and NTRK3 genes. It is specifically used for identifying NTRK mutations that may predict resistance to Trk inhibitors. These mutations are found within solid tumor samples, and the presence of an NTRK mutation may indicate resistance to first-generation Trk inhibitors, which helps in guiding patient management and therapy decisions particularly in cases where resistance is expected, and alternative treatments or second-generation inhibitors need consideration.
Special Instructions
Not provided.
Limitations
This test does not assess germline alterations within the listed genes. A minimum of 20% tumor content is crucial for test accuracy. Variants of uncertain significance may be identified. The test may detect single exon deletions but does not capture multi-exon deletions, duplications, larger-scale genomic copy number variations, or epigenetic changes like promoter methylation. Results should be interpreted concerning clinical and other laboratory data, and additional testing may be necessary if there is a hereditary risk.
Methodology
NGS (Targeted)
Biomarkers
NTRK1, NTRK2, NTRK3
Gene
LOINC Codes
- 105596-1 - NTRK1 & NTRK2 & NTRK3 targ mut anl Tiss
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
- 31208-2 - Specimen source
- 80398-1 - Unique ID Current sample
- 85069-3 - Lab test method
- 62364-5 - Test performance info Spec
- 18771-6 - Provider signing name
Result Turnaround Time
12-20 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block with an acceptable amount of tumor tissue. Ensure at least 20% tumor nuclei are present.
Storage Instructions
Ambient (preferred) or Refrigerated.
Causes for Rejection
Improper specimen collection and handling, and inadequate tumor content may lead to rejection.
