ESR1 Mutation Test: Breast Cancer, Hormone Resistance Marker, Mutation Status, and Recurrence
An ESR1 mutation test looks for acquired changes in the ESR1 gene, which encodes estrogen receptor alpha. In breast cancer, these mutations matter mainly...
EWSR1 Fusion Test: Sarcoma, Ewing Tumor, Gene Fusion, and Tumor Classification
An EWSR1 fusion test looks for a rearrangement involving the EWSR1 gene, a molecular event found in Ewing sarcoma and several other bone and...
EZH2 Mutation Test: Lymphoma, Mutation Status, Prognosis, and Molecular Meaning
An EZH2 mutation test looks for tumor DNA changes in EZH2, a gene that controls how other genes are switched on and off through...
FGFR3 Mutation Test: Bladder Cancer, Mutation Status, and Molecular Meaning
An FGFR3 mutation test looks for activating changes in the FGFR3 gene, an important molecular driver in many urothelial bladder cancers. FGFR3 alterations are...
FUS Fusion Test: Sarcoma Gene Fusion, Tumor Classification, and Molecular Result
A FUS fusion test looks for an abnormal rearrangement involving the FUS gene, usually in a tumor sample. The result can be highly informative...
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...