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...
TP53 Genetic Test: Li-Fraumeni Syndrome, Cancer Risk, and Results
A TP53 genetic test looks for an inherited pathogenic variant associated with Li-Fraumeni syndrome and related heritable TP53 cancer-predisposition syndromes. TP53 is a major...
Tumor Molecular Profiling Test: Cancer Mutations, Treatment Targets, and Results
Tumor molecular profiling is an umbrella term for laboratory tests that characterize the biological changes driving a cancer. A profile may combine DNA sequencing,...
Tumor Mutational Burden (TMB) Test: Cancer Immunotherapy Marker and Results
A tumor mutational burden test estimates how many acquired DNA mutations are present per megabase of analyzed tumor sequence. The result is usually reported...
VHL Genetic Test: von Hippel-Lindau Syndrome, Cancer Risk, and Results
A VHL genetic test looks for an inherited pathogenic variant that causes von Hippel-Lindau syndrome, a lifelong tumor-predisposition condition. Carriers can develop retinal and...
WT1 Genetic Test: Wilms Tumor, Kidney Cancer Risk, and Results
A WT1 genetic test looks for an inherited or de novo pathogenic variant that can cause WT1 disorder, a spectrum involving Wilms tumor, progressive...