Gene Fusion Panel Test: Cancer Fusions, Rearrangement Markers, and Molecular Tumor Classification
A gene fusion panel tests a tumor for abnormal gene pairings created when chromosomes rearrange. These fusions can act as cancer drivers, help identify...
HER2/ERBB2 Mutation Test: Breast, Gastric, Lung Cancer, Mutation Status, and HER2 Meaning
A HER2/ERBB2 mutation test looks for DNA changes in the ERBB2 gene, which encodes the HER2 receptor. The result is not the same as...
Homologous Recombination Deficiency (HRD) Test: DNA Repair Deficiency, Ovarian Cancer, and Genomic Score
A homologous recombination deficiency, or HRD, test looks for evidence that a tumor has lost an important high-accuracy DNA repair pathway. In ovarian cancer,...
HRAS Mutation Test: Head and Neck Cancer, Thyroid Cancer, Mutation Status, and Meaning
An HRAS mutation test looks for activating DNA changes in the HRAS gene, one of the RAS family genes that control cell growth signaling....
IDH1 Mutation Test: Glioma, Leukemia, Cholangiocarcinoma, Mutation Status, and Meaning
An IDH1 mutation test looks for abnormal changes in the IDH1 gene, most commonly at amino acid R132. These mutations alter cell metabolism and...
IDH2 Mutation Test: Leukemia, Glioma, Cholangiocarcinoma, Mutation Status, and Meaning
An IDH2 mutation test looks for specific changes in the IDH2 gene that can help classify a tumor, explain part of its biology, and...
KIT Mutation Test: GIST, Melanoma, Mast Cell Disease, Mutation Status, and Meaning
A KIT mutation test looks for DNA changes that activate the KIT receptor tyrosine kinase. The result can be highly important, but its meaning...
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...