Home Blog

CALR Mutation Test: Myeloproliferative Neoplasm, Platelets, and Results

Understand CALR mutation testing for high platelets, essential thrombocythemia, and primary myelofibrosis, including type 1 and type 2 results, prognosis, and follow-up.

A CALR mutation test looks for acquired changes in the calreticulin gene, usually small insertions or deletions in exon 9. These mutations are major...

CCND1/IGH Fusion Test: Mantle Cell Lymphoma and Results

Understand the CCND1/IGH fusion test for mantle cell lymphoma, including t(11;14), FISH results, cyclin D1 and SOX11 findings, prognosis, and diagnostic limits.

A CCND1/IGH fusion test looks for the chromosome translocation t(11;14)(q13;q32), which places CCND1 next to the immunoglobulin heavy-chain gene IGH. The change causes excess...

CDH1 Genetic Test: Hereditary Diffuse Gastric Cancer Risk and Results

Understand CDH1 genetic testing, diffuse gastric and lobular breast cancer risks, positive and VUS results, expert endoscopy, preventive gastrectomy, and family testing.

A CDH1 genetic test looks for inherited changes in the gene that makes E-cadherin, a protein that helps epithelial cells attach to one another....

CEBPA Mutation Test: AML Prognosis, Leukemia Genetics, and Results

Understand CEBPA mutation testing in AML, including in-frame bZIP results, favorable-risk classification, germline familial leukemia, treatment, MRD, and test limitations.

A CEBPA mutation test looks for changes in a gene that controls the maturation of myeloid blood cells. CEBPA mutations occur in a subset...

CHEK2 Genetic Test: Breast, Colon, Prostate Cancer Risk, and Results

Understand CHEK2 genetic test results, variant-specific breast cancer risk, changing colon guidance, prostate screening, inheritance, family testing, and next steps.

A CHEK2 genetic test looks for inherited changes in a DNA-damage response gene associated most consistently with a moderate increase in female breast cancer...

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...