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...
SDHC Genetic Test: Paraganglioma, Pheochromocytoma, and Results
An SDHC genetic test looks for an inherited pathogenic variant that increases susceptibility to paraganglioma and, less often, pheochromocytoma. SDHC is part of the...
SDHD Genetic Test: Paraganglioma, Pheochromocytoma, and Results
An SDHD genetic test looks for an inherited pathogenic variant that predisposes to paragangliomas and pheochromocytomas. SDHD-associated disease often involves multiple head and neck...
Solid Tumor NGS Panel Test: Cancer Mutations, Fusions, and Treatment Results
A solid tumor next-generation sequencing panel examines many cancer-related genes at the same time. It can detect mutations, small insertions or deletions, copy-number changes,...
STK11 Genetic Test: Peutz-Jeghers Syndrome, Cancer Risk, and Results
An STK11 genetic test looks for an inherited pathogenic variant that causes Peutz-Jeghers syndrome. This condition is characterized by hamartomatous polyps, dark freckle-like pigmentation...
TET2 Mutation Test: Blood Cancer, Clonal Hematopoiesis, and Results
A TET2 mutation test looks for acquired DNA changes in blood-forming cells. TET2 mutations are common in clonal hematopoiesis, a state in which one...