MSH6 Mutation Test: Lynch Syndrome, Colon Cancer, Mismatch Repair, and Variant Meaning
An MSH6 mutation test can identify an inherited pathogenic variant that causes Lynch syndrome or help explain abnormal mismatch repair findings in a tumor....
MUTYH Mutation Test: Colon Cancer, Polyposis, Variant Meaning, and Hereditary Risk
A MUTYH mutation test looks for inherited changes in the MUTYH gene that can raise the risk of colorectal polyps and colorectal cancer. The...
MYC Rearrangement Test: Lymphoma, Leukemia, High-Grade Disease, and FISH Result
A MYC rearrangement test looks for a structural change involving the MYC gene, usually with fluorescence in situ hybridization (FISH). MYC is a powerful...
MYD88 Mutation Test: Waldenstrom Macroglobulinemia, Lymphoma, L265P Variant, and Meaning
A MYD88 mutation test looks for acquired changes in the MYD88 gene in abnormal B cells. The best-known result is MYD88 L265P, a hotspot...
NPM1 Mutation Test: AML Prognosis, MRD Monitoring, Mutation Status, and Meaning
An NPM1 mutation test looks for acquired changes in the nucleophosmin 1 gene that define one of the largest molecular subgroups of acute myeloid...
NRAS Mutation Test: Melanoma, Colon Cancer, Mutation Status, and Result Meaning
An NRAS mutation test looks for activating changes in the NRAS gene within cancer cells. The result is most often used as part of...
NTRK Fusion Test: Gene Fusion, Tumor-Agnostic Marker, Positive Result, and Meaning
An NTRK fusion test looks for abnormal joining of an NTRK gene to another gene in a cancer cell. These fusions can create a...
PALB2 Mutation Test: Breast, Pancreatic, Ovarian Cancer Risk, DNA Repair, and Variant Meaning
A PALB2 mutation test looks for harmful variants in a DNA-repair gene that works closely with BRCA1 and BRCA2. A germline pathogenic or likely...
PDGFRA Mutation Test: GIST, Mutation Status, Exon Variants, and Result Meaning
A PDGFRA mutation test looks for activating changes in the platelet-derived growth factor receptor alpha gene, most often as part of the molecular evaluation...
PIK3CA Mutation Test: Breast Cancer, Solid Tumors, PI3K Pathway, and Mutation Meaning
A PIK3CA mutation test looks for activating changes in the gene that encodes the p110α catalytic subunit of PI3K, a central part of the...
PML-RARA Fusion Test: Acute Promyelocytic Leukemia, Gene Fusion, Diagnosis, and Monitoring
A PML-RARA fusion test detects the defining molecular abnormality of classic acute promyelocytic leukemia (APL), a medical emergency that can cause life-threatening bleeding early...
PMS2 Mutation Test: Lynch Syndrome, Colon Cancer, Mismatch Repair, and Variant Meaning
A PMS2 mutation test looks for inherited or acquired changes in the PMS2 gene, one of the genes responsible for DNA mismatch repair. A...
PTEN Mutation Test: Tumor Suppressor Gene, Cancer Risk, Pathway Alteration, and Meaning
A PTEN mutation test looks for changes in the PTEN tumor suppressor gene, but the meaning depends strongly on what sample was tested. A...
RET Fusion Test: Lung Cancer, Thyroid Cancer, Gene Fusion, and Result Meaning
A RET fusion test looks for an abnormal rearrangement that joins part of the RET gene to another gene, creating a continuously active growth...
RUNX1 Mutation Test: AML, Myelodysplastic Syndrome, Mutation Status, and Prognosis
A RUNX1 mutation test looks for changes in RUNX1, a transcription-factor gene that helps blood stem cells mature normally. Acquired RUNX1 mutations occur in...
SMARCB1/INI1 Loss Test: Rhabdoid Tumor, Sarcoma, IHC Loss, and Interpretation
A SMARCB1/INI1 loss test usually refers to immunohistochemistry (IHC) that checks whether tumor-cell nuclei retain the INI1 protein made by the SMARCB1 gene. Complete...
Solid Tumor NGS Panel Test: Tumor Mutations, Gene Fusions, Copy Number Changes, and Molecular Results
A solid tumor next-generation sequencing (NGS) panel analyzes many cancer-related genes at once to identify mutations, gene fusions, copy-number changes, and sometimes genomic biomarkers...
SS18-SSX Fusion Test: Synovial Sarcoma, Gene Fusion, and Molecular Diagnosis
An SS18-SSX fusion test looks for the defining molecular abnormality of synovial sarcoma: a rearrangement involving SS18 on chromosome 18 and an SSX gene...
TFE3 Fusion Test: Kidney Cancer, Soft Tissue Tumor, Translocation Marker, and Result Meaning
A TFE3 fusion test looks for rearrangements of the TFE3 transcription-factor gene on chromosome Xp11. These fusions define or strongly support several uncommon tumor...
TP53 Mutation Test in Leukemia High-Risk Blood Cancer, Mutation Status, and Prognosis
A TP53 mutation test looks for changes in TP53, a tumor suppressor gene that helps damaged cells stop dividing or undergo cell death. In...