SMAD4 Test for Pancreatic Cancer: Tumor Suppressor Marker, Loss, and Prognosis
A SMAD4 test in pancreatic cancer looks for loss or alteration of a tumor suppressor that is central to transforming growth factor-beta (TGF-β) signaling....
AKT1 Mutation Test: Breast Cancer, Solid Tumors, AKT Pathway, and Mutation Meaning
An AKT1 mutation test looks for DNA changes in the AKT1 gene, a key part of the PI3K-AKT-mTOR growth-signaling pathway. In cancer, the best-known...
ALK Fusion Test: Gene Fusion, Lung Cancer Marker, Positive Result, and Molecular Meaning
An ALK fusion test looks for a cancer-driving rearrangement involving the ALK gene, most often in non-small cell lung cancer (NSCLC). The classic example...
APC Mutation Test: Colon Cancer, Familial Adenomatous Polyposis, Variant Meaning, and Hereditary Risk
An APC mutation test looks for harmful changes in the APC gene, a tumor-suppressor gene that helps control cell growth through the Wnt/beta-catenin pathway....
ASXL1 Mutation Test: Myeloid Cancer, Prognosis, Mutation Status, and Risk Meaning
An ASXL1 mutation test looks for acquired DNA changes in the ASXL1 gene, an epigenetic regulator that is frequently altered in myeloid blood disorders....
ATM Mutation Test: DNA Repair Gene, Breast Cancer Risk, Prostate Cancer Risk, and Variant Meaning
An ATM mutation test looks for harmful changes in the ATM gene, which helps cells detect and respond to DNA double-strand breaks. A pathogenic...
BCL2 Rearrangement Test: Follicular Lymphoma, Double-Hit Lymphoma, and FISH Result
A BCL2 rearrangement test looks for a structural chromosome change involving the BCL2 gene, most often by fluorescence in situ hybridization (FISH). In conventional...
BCL6 Rearrangement Test: Lymphoma, Prognosis, Rearrangement Status, and FISH Result
A BCL6 rearrangement test looks for a structural chromosome change involving the BCL6 gene, usually with fluorescence in situ hybridization (FISH). BCL6 is a...
BCR-ABL1 Test: CML, Leukemia, Philadelphia Chromosome, and Molecular Monitoring
A BCR-ABL1 test detects the BCR::ABL1 fusion gene or its RNA transcript, the defining molecular abnormality in chronic myeloid leukemia (CML) and an important...
BRAF Mutation Test: V600E, Melanoma, Colon, Thyroid, Lung Cancer, and Mutation Meaning
A BRAF mutation test checks a tumor for changes in the BRAF gene, most importantly the activating BRAF V600E variant. BRAF encodes a protein...
BRCA1 Mutation Test: Hereditary Cancer Risk, DNA Repair, Variant Meaning, and Family Risk
A BRCA1 mutation test looks for inherited or tumor-acquired changes in the BRCA1 gene, a major DNA-repair gene and one of the best-established causes...
BRCA2 Mutation Test: Hereditary Cancer Risk, DNA Repair, Variant Meaning, and Family Risk
A BRCA2 mutation test looks for changes in the BRCA2 gene that can affect DNA repair and, in some cases, substantially raise the risk...
BTK Mutation Test: Leukemia, Lymphoma, Drug Resistance Marker, and Mutation Meaning
A BTK mutation test looks for acquired changes in the BTK gene that can help explain resistance to Bruton tyrosine kinase inhibitors in certain...
CALR Mutation Test: Myeloproliferative Neoplasm, Platelets, Myelofibrosis, and Result Meaning
A CALR mutation test looks for acquired changes in the calreticulin gene that help diagnose and classify certain BCR::ABL1-negative myeloproliferative neoplasms, especially essential thrombocythemia...
Cancer Gene Mutation Panel: Tumor Mutations, Gene Variants, Diagnostic Meaning, and Molecular Profiling
A cancer gene mutation panel analyzes many cancer-related genes at the same time to identify molecular changes that may help classify a tumor, estimate...
CDK4 Amplification Test: Liposarcoma, Copy Number Gain, Cancer Marker, and Tumor Classification
A CDK4 amplification test looks for extra copies of the CDK4 gene in tumor cells. In soft-tissue pathology, this finding is most closely associated...