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Circulating Tumor DNA (ctDNA) Test: Cancer Monitoring, Mutations, and Results

Understand ctDNA test results for liquid biopsy profiling, targeted therapy, treatment response, molecular residual disease, recurrence risk, false negatives, and follow-up.

A circulating tumor DNA test analyzes small fragments of cancer-derived DNA released into the bloodstream. It can identify tumor mutations without a new tissue...

Comprehensive Genomic Profiling Test: Cancer Genes, Mutations, and Results

Understand comprehensive genomic profiling results, tissue and liquid testing, actionable mutations, MSI, TMB, possible germline findings, limitations, and treatment matches.

Comprehensive genomic profiling examines many cancer-related genes and multiple types of genomic alteration in one test. It is most often used for advanced solid...

DICER1 Genetic Test: Tumor Predisposition, Cancer Risk, and Results

Understand DICER1 genetic test results, pleuropulmonary blastoma and other tumor risks, mosaicism, childhood and adult surveillance, inheritance, and family testing.

A DICER1 genetic test looks for inherited or mosaic changes associated with a rare tumor predisposition syndrome that can affect the lungs, kidneys, thyroid,...

DNMT3A Mutation Test: AML, Clonal Hematopoiesis, and Results

Learn how a DNMT3A mutation test is used in AML and clonal hematopoiesis, what variant allele frequency means, and how positive, negative, and persistent results are interpreted.

A DNMT3A mutation test looks for acquired changes in the DNMT3A gene, most often in blood or bone marrow. The result can help characterize...

EGFR Mutation Test: Lung Cancer, Targeted Therapy, and Results

Understand EGFR mutation testing for lung cancer, including tissue and plasma methods, exon 19, L858R and exon 20 results, targeted therapy meaning, resistance, and next steps.

An EGFR mutation test examines cancer DNA or RNA for changes in the epidermal growth factor receptor gene. In non-small-cell lung cancer, especially adenocarcinoma,...

EPCAM Deletion Test: Lynch Syndrome, Colon Cancer Risk, and Results

Learn how EPCAM deletion testing identifies a cause of Lynch syndrome, why deletion analysis matters, what positive and negative results mean, and how findings affect colon cancer surveillance and family testing.

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

Learn when ESR1 mutation testing is used in metastatic breast cancer, how plasma and tissue results are interpreted, and how activating variants can guide treatment after hormone therapy resistance.

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

Learn how FGFR2 and FGFR3 genetic testing detects cancer mutations and fusions, what positive or negative results mean, and how findings may guide targeted therapy.

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

Understand FH genetic testing for hereditary leiomyomatosis and renal cell cancer, including who should test, result meanings, kidney surveillance, and family risk.

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

Learn what FLCN genetic testing shows for Birt-Hogg-Dubé syndrome, including kidney cancer surveillance, lung cyst risks, result meanings, and family testing.

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

Learn how the FLT3 mutation test guides AML risk assessment, targeted treatment, transplant planning, relapse testing, and interpretation of ITD and TKD 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

Understand HER2 and ERBB2 testing in breast, gastric, lung, and other cancers, including IHC, ISH, mutations, targeted therapy, and result interpretation.

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

Learn how hereditary cancer genetic panels test multiple risk genes, who should be tested, what positive, negative, and VUS results mean, and how findings guide care.

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

Learn how IDH1 and IDH2 mutation testing guides diagnosis and treatment in glioma, AML, and cholangiocarcinoma, including positive, negative, and targeted therapy 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

Learn how JAK2 mutation testing supports diagnosis of polycythemia vera, essential thrombocythemia, and myelofibrosis and how positive, negative, and low-level results are interpreted.

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

Learn how KIT mutation testing guides GIST therapy, identifies selected melanoma targets, supports systemic mastocytosis diagnosis, and clarifies positive, negative, and low-level 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

Learn how KRAS mutation testing guides treatment in colorectal, lung, and pancreatic cancer and how to interpret G12C, other variants, negative results, and repeat testing.

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

Learn how liquid biopsy and ctDNA testing find tumor mutations, guide targeted therapy, assess resistance and MRD, and why negative or low-level plasma results need careful interpretation.

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

Learn how Lynch syndrome testing for MLH1, MSH2, MSH6, PMS2, and EPCAM works, how tumor screening differs from germline testing, and what positive, negative, and uncertain results mean.

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

Learn how MEN1 genetic testing confirms multiple endocrine neoplasia type 1, who should be tested, what positive and negative results mean, and how surveillance protects patients and relatives.

A MEN1 genetic test looks for an inherited pathogenic variant that causes multiple endocrine neoplasia type 1, a syndrome marked mainly by parathyroid tumors,...