MSH2 Genetic Test: Lynch Syndrome, Colon Cancer Risk, and Results
An MSH2 genetic test looks for an inherited change in the MSH2 gene that prevents DNA mismatch repair from working normally. A pathogenic germline...
MSH6 Genetic Test: Lynch Syndrome, Colon Cancer Risk, and Results
An MSH6 genetic test looks for an inherited change in the MSH6 gene that prevents DNA mismatch repair from working normally. A pathogenic germline...
MUTYH Genetic Test: Colon Polyposis, Cancer Risk, and Results
A MUTYH genetic test looks for inherited variants in a DNA-repair gene linked to MUTYH-associated polyposis, or MAP. The most important distinction is whether...
MYC Rearrangement Test: Lymphoma, Leukemia, and Results
A MYC rearrangement test looks for a structural change that places the MYC gene next to a powerful regulatory region, causing excessive MYC activity...
MYD88 Mutation Test: Waldenstrom Macroglobulinemia, Lymphoma, and Results
A MYD88 mutation test looks for an acquired change in the MYD88 gene, most often the p.L265P variant, in bone marrow, blood, lymph node...
NPM1 Mutation Test: AML Prognosis, Leukemia Genetics, and Results
An NPM1 mutation test looks for acquired changes in the nucleophosmin 1 gene in blood or bone marrow. NPM1 mutations occur in about one-third...
NRAS Mutation Test: Melanoma, Colon Cancer, and Results
An NRAS mutation test looks for acquired tumor changes that keep the RAS–MAPK growth pathway active. It is most often included in molecular testing...
NTRK Fusion Test: Cancer Targeted Therapy, Gene Fusion, and Results
An NTRK fusion test looks for an abnormal joining of NTRK1, NTRK2, or NTRK3 with another gene. The fusion creates a continuously active TRK...
PALB2 Genetic Test: Breast Cancer Risk, Mutations, and Results
A PALB2 genetic test looks for an inherited variant in a gene that works with BRCA1 and BRCA2 to repair broken DNA. A pathogenic...
PDGFRA Mutation Test: GIST, Targeted Therapy, and Results
A PDGFRA mutation test looks for acquired changes in platelet-derived growth factor receptor alpha, most often in a suspected or confirmed gastrointestinal stromal tumor...
PD-L1 Test: Cancer Immunotherapy, Expression Score, and Results
A PD-L1 test uses immunohistochemistry to measure programmed death ligand 1 protein in a tumor sample. The result can help select immune checkpoint inhibitor...
PIK3CA Mutation Test: Breast Cancer, Targeted Therapy, and Results
A PIK3CA mutation test looks for acquired changes in the gene that encodes the p110-alpha subunit of PI3K, a central growth and survival pathway....
PML-RARA Test: Acute Promyelocytic Leukemia, Fusion Gene, and Results
A PML-RARA test detects the fusion gene that defines acute promyelocytic leukemia (APL), a highly treatable but immediately dangerous subtype of acute myeloid leukemia....
PMS2 Genetic Test: Lynch Syndrome, Colon Cancer Risk, and Results
An PMS2 genetic test looks for an inherited change in the PMS2 gene that prevents DNA mismatch repair from working normally. A pathogenic germline...
PTEN Genetic Test: Cowden Syndrome, Cancer Risk, and Results
A PTEN genetic test looks for an inherited pathogenic variant in the PTEN tumor-suppressor gene. A positive germline result can confirm PTEN hamartoma tumor...
RB1 Genetic Test: Retinoblastoma, Cancer Risk, and Results
An RB1 genetic test determines whether a child or adult carries a disease-causing change in the RB1 tumor-suppressor gene. The test is central to...
RET Fusion Test: Lung and Thyroid Cancer, Targeted Therapy, and Results
A RET fusion test looks for an acquired rearrangement that joins part of the RET gene to another gene inside cancer cells. The fusion...
RET Genetic Test: MEN2, Medullary Thyroid Cancer, and Results
A germline RET genetic test looks for an inherited activating variant that causes multiple endocrine neoplasia type 2, or MEN2. MEN2 creates a high...
ROS1 Fusion Test: Lung Cancer, Targeted Therapy, and Results
A ROS1 fusion test looks for a rearrangement that joins part of the ROS1 gene to another gene and creates an abnormal growth signal...
SDHB Genetic Test: Paraganglioma, Pheochromocytoma, and Cancer Risk
An SDHB genetic test looks for an inherited pathogenic variant in a gene that helps mitochondria process energy and restrain abnormal cell growth. A...