Characterize genomic and molecular alterations within a tumor to refine classification, determine complementary assays, and inform therapeutic investigations.
Unlike germline testing, tumor profiling primarily measures acquired (somatic) alterations. Depending on cancer type and specimen quality, testing may include SNVs, indels, copy number variation, rearrangements, and RNA abnormalities. Platforms differ in sensitivity and do not detect every alteration class equally.
The listed assays are examples, not confirmed available services. Clinical indications, assay validation, and specimen requirements must be checked with the laboratory.
Examples for discussion with an oncologist; test selection must reflect the clinical circumstances of each patient.
Advanced NSCLC requires molecular driver characterization before treatment selection.
Tumor DNA NGS covering actionable genes, RNA fusion analysis if needed, and validated PD-L1 immunohistochemistry.
EGFR, KRAS, BRAF, MET, and ALK/ROS1/RET/NTRK fusions may be relevant; verify that the selected assay covers the required alterations.
The tumor origin remains unidentified after standard pathology and imaging workup.
Consider broad DNA/RNA profiling and, in selected cases, a validated expression or methylation classifier.
Profiling may identify an actionable marker or suggest a tissue of origin, but it does not replace diagnostic pathology.
Detailed subtyping and prognostic or monitorable alterations are needed.
Hematologic NGS, RNA fusion testing, and disease-appropriate cytogenetics, FISH, or PCR.
Molecular and chromosomal findings complement morphology, flow cytometry, and accepted diagnostic criteria.
Only a few tissue slides or existing FASTQ/BAM/VCF files are available.
Assess quantity, integrity, and tumor cellularity before deciding on a focused assay or validated reanalysis.
Confirm assay feasibility and detection limits before ordering comprehensive genomic profiling.
Each entry specifies the sample, testing goal, and clinical context to avoid confusion.
Multigene testing for eligible tumors
Targeted answers to specific clinical questions using a smaller gene set
Detect ALK, ROS1, RET, NTRK and other tumor-relevant fusions
Determine gains, deletions, and amplifications within assay capability
Aid tumor classification and therapy; hereditary risk needs separate evaluation
Complement diagnosis and classification of hematologic malignancies
Broad sequencing for selected complex or research questions
Expression patterns and signatures; clinical use requires validation
Define the relevant clinical information and expected report components before discussing testing with the scientific team.
Cancer type and stage, pathology report, and molecular objective
Specimen type (FFPE, blood, marrow, or files) and quality metrics
Prior IHC, FISH, or PCR findings to prevent unnecessary repeat testing
Reportable alterations with coordinates, read depth, quality, variant allele fraction, and assay coverage
Clarification of alteration classes detected or not detected by the method
Suggestions for confirmatory or complementary testing if needed
• A negative result does not exclude tumor alterations; tumor cellularity and specimen integrity affect sensitivity.
• NGS does not replace pathology, IHC, FISH, or other tests required for diagnosis.
• Somatic variant interpretations must not be conflated with inherited germline risk classifications.
Describe the clinical question and available data in the support form; do not send patient identifiers.
