EPCAM Deletion Test: Lynch Syndrome, Colon Cancer Risk, and Results
An EPCAM deletion test looks for specific inherited losses of DNA at the end of the EPCAM gene that can cause Lynch syndrome. EPCAM...
ESR1 Mutation Test: Breast Cancer, Hormone Therapy Resistance, and Results
An ESR1 mutation test looks for acquired changes in the gene that encodes estrogen receptor alpha. In hormone receptor-positive, HER2-negative metastatic breast cancer, activating...
FGFR2 and FGFR3 Genetic Test: Cancer Mutations, Fusions, and Results
FGFR2 and FGFR3 genetic testing looks for changes that can activate fibroblast growth factor receptor signaling in cancer cells. The most clinically important findings...
FH Genetic Test: Hereditary Leiomyomatosis, Renal Cell Cancer, and Results
An FH genetic test looks for an inherited pathogenic variant in the fumarate hydratase gene. A disease-causing variant can establish FH tumor predisposition syndrome,...
FLCN Genetic Test: Birt-Hogg-Dube Syndrome, Kidney Cancer, and Results
An FLCN genetic test looks for inherited changes that cause Birt-Hogg-Dubé syndrome, a condition associated with kidney tumors, lung cysts, spontaneous pneumothorax, and benign...
FLT3 Mutation Test: AML, Leukemia Risk, and Treatment Results
An FLT3 mutation test checks leukemia cells for changes in the FMS-like tyrosine kinase 3 gene. It is a standard part of evaluating newly...
HER2/ERBB2 Test: Breast, Gastric, Lung Cancer, and Targeted Therapy Results
HER2, also called ERBB2, can be tested as a protein, a gene copy-number change, or an activating gene mutation. These are related but distinct...
Hereditary Cancer Genetic Panel Test: Cancer Risk Genes and Results
A hereditary cancer genetic panel examines multiple genes for inherited variants that raise the risk of certain cancers. It is performed on blood, saliva,...
IDH1 and IDH2 Mutation Test: Brain Cancer, Leukemia, Cholangiocarcinoma, and Results
IDH1 and IDH2 mutation testing looks for cancer-driving changes in isocitrate dehydrogenase enzymes. These mutations produce the abnormal metabolite D-2-hydroxyglutarate, which changes DNA and...
JAK2 Mutation Test: Myeloproliferative Neoplasm, Blood Cancer, and Results
A JAK2 mutation test looks for acquired changes that keep blood-forming cells switched on when they should respond only to normal growth signals. The...
KIT Mutation Test: GIST, Melanoma, Mast Cell Disease, and Results
A KIT mutation test looks for acquired changes in a receptor that controls cell growth and survival. The result has very different meanings across...
KRAS Mutation Test: Colon, Lung, Pancreatic Cancer, and Results
A KRAS mutation test identifies acquired changes in one of the most common cancer-driving genes. Its clinical meaning depends strongly on the tumor type...
Liquid Biopsy Cancer Test: ctDNA, Tumor Mutations, and Results
A liquid biopsy cancer test analyzes tumor-related material in blood or another body fluid, most often fragments of circulating tumor DNA, or ctDNA, in...
Lynch Syndrome Genetic Test: MLH1, MSH2, MSH6, PMS2, EPCAM, and Results
A Lynch syndrome genetic test looks for inherited pathogenic variants in MLH1, MSH2, MSH6, PMS2, or EPCAM that impair DNA mismatch repair and increase...
MEN1 Genetic Test: Multiple Endocrine Neoplasia Type 1 and Results
A MEN1 genetic test looks for an inherited pathogenic variant that causes multiple endocrine neoplasia type 1, a syndrome marked mainly by parathyroid tumors,...
MET Exon 14 Skipping Test: Lung Cancer, Targeted Therapy, and Results
A MET exon 14 skipping test identifies DNA or RNA changes that remove exon 14 from the MET messenger RNA and keep the MET...
Microsatellite Instability (MSI) and Mismatch Repair Deficiency (dMMR) Test: Cancer Immunotherapy, Lynch Syndrome, and Results
Microsatellite instability and mismatch repair testing evaluate whether a tumor has lost an important DNA error-correction system. Mismatch repair deficiency (dMMR) is usually measured...
Minimal Residual Disease (MRD) Test: Cancer Recurrence Risk and Results
A minimal residual disease test looks for very small amounts of cancer that remain after treatment, often at levels too low to appear on...
MLH1 Genetic Test: Lynch Syndrome, Colon Cancer Risk, and Results
An MLH1 genetic test looks for an inherited change in the MLH1 gene that prevents DNA mismatch repair from working normally. A pathogenic germline...
MPL Mutation Test: Myeloproliferative Neoplasm, Platelets, and Results
An MPL mutation test looks for acquired changes in the MPL gene, most often in people with persistent high platelet counts or other findings...