KRAS Mutation Test: Colon, Lung, Pancreatic Cancer, Mutation Status, and Result Meaning
A KRAS mutation test looks for activating changes in the KRAS gene that can influence cancer classification and treatment. KRAS is one of the...
MDM2 Amplification Test: Liposarcoma, Copy Number Gain, Tumor Diagnosis, and FISH Result
An MDM2 amplification test checks whether tumor cells contain many extra copies of the MDM2 gene. The test is especially useful when a pathologist...
MET Amplification Test: Lung Cancer, Gastric Cancer, Copy Number Gain, and Result Meaning
A MET amplification test checks whether tumor cells contain extra copies of the MET gene, which can activate growth signaling and sometimes create a...
Microsatellite Instability (MSI) Test: Lynch Syndrome, Mismatch Repair, Cancer Risk, and Result Meaning
A microsatellite instability (MSI) test evaluates whether a tumor has accumulated abnormal length changes in short repetitive DNA sequences because the DNA mismatch repair...
Mismatch Repair (MMR) Gene Test: MLH1, MSH2, MSH6, PMS2, and Lynch Syndrome
A mismatch repair (MMR) gene test evaluates genes that protect DNA from copying errors, most importantly MLH1, MSH2, MSH6, and PMS2, with EPCAM also...
MLH1 Mutation Test: Lynch Syndrome, Colon Cancer, Mismatch Repair, and Variant Meaning
An MLH1 mutation test can be used to look for an inherited pathogenic variant that causes Lynch syndrome or to characterize changes found in...
MPL Mutation Test: Myeloproliferative Neoplasm, Platelets, Thrombocytosis, and Result Meaning
An MPL mutation test looks for activating changes in the MPL gene, which encodes the thrombopoietin receptor that helps control platelet production and blood-cell...
MSH2 Mutation Test: Lynch Syndrome, Colon Cancer, Mismatch Repair, and Variant Meaning
An MSH2 mutation test can identify an inherited pathogenic variant that causes Lynch syndrome or clarify an abnormal mismatch repair result found in a...
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...