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

Understand what an ALK mutation test detects in lung cancer, how tissue and liquid biopsy results are interpreted, and how ALK-positive findings guide targeted therapy.

An ALK mutation test looks for an abnormal change involving the ALK gene in cancer cells. In lung cancer, the important finding is usually...

APC Genetic Test: Familial Adenomatous Polyposis, Colon Cancer Risk, and Results

Learn what an APC genetic test can show, how positive, negative, and uncertain results are interpreted, and how FAP findings guide colon surveillance, surgery, and family testing.

An APC genetic test looks for inherited harmful variants in the APC gene, the main cause of familial adenomatous polyposis. Familial adenomatous polyposis, or...

ASXL1 Mutation Test: Blood Cancer, Myeloid Neoplasm, and Results

Understand what an ASXL1 mutation test shows in blood and bone marrow, how results relate to myeloid neoplasms and clonal hematopoiesis, and how they affect prognosis and follow-up.

An ASXL1 mutation test looks for acquired changes in the ASXL1 gene in blood or bone marrow cells. ASXL1 variants are found in several...

ATM Genetic Test: Breast Cancer Risk, DNA Repair, and Results

Learn what an ATM genetic test shows, how positive, negative, and uncertain results affect breast and other cancer risk, and how screening and family testing are planned.

An ATM genetic test looks for an inherited harmful variant in the ATM gene, which helps cells recognize and repair damaged DNA. People with...

BAP1 Genetic Test: Melanoma, Mesothelioma, Kidney Cancer Risk, and Results

Learn what a BAP1 genetic test shows, how results relate to melanoma, mesothelioma, and kidney cancer risk, and how surveillance and family testing are planned.

A BAP1 genetic test looks for an inherited harmful variant in the BAP1 gene, which can cause BAP1 tumor predisposition syndrome. This rare syndrome...

BCL2 Rearrangement Test: Follicular Lymphoma, Double-Hit Lymphoma, and Results

Understand what a BCL2 rearrangement test shows, how results support follicular lymphoma diagnosis, and why concurrent MYC and BCL2 rearrangements identify double-hit lymphoma.

A BCL2 rearrangement test looks for a chromosome change that places the BCL2 gene under the control of a highly active partner, most often...

BCL6 Rearrangement Test: Lymphoma, Prognosis, and Results

Learn what a BCL6 rearrangement test shows, how positive and negative results are interpreted, and how BCL6, MYC, and BCL2 findings affect lymphoma classification and prognosis.

A BCL6 rearrangement test looks for a structural change involving the BCL6 gene on chromosome 3. BCL6 normally helps germinal-center B cells grow, change...

BCR-ABL1 Test: CML, Leukemia, Philadelphia Chromosome, and Results

Understand BCR-ABL1 testing for CML and Philadelphia-positive leukemia, including diagnostic methods, International Scale results, molecular response milestones, and resistance testing.

A BCR-ABL1 test detects or measures the fusion gene that drives chronic myeloid leukemia and a major subtype of acute lymphoblastic leukemia. The fusion...

BRAF Mutation Test: Melanoma, Colon, Thyroid, Lung Cancer, and Results

Understand BRAF mutation testing in melanoma, colorectal, thyroid, and lung cancer, including V600E results, testing methods, targeted therapy, and negative-test limitations.

A BRAF mutation test looks for changes in the BRAF gene, which controls part of the MAPK signaling pathway that tells cells when to...

BRCA1 and BRCA2 Genetic Test: Cancer Risk, Mutations, and Results

Understand BRCA1 and BRCA2 genetic testing, cancer risks, positive, negative, and VUS results, screening, preventive surgery, treatment options, and family testing.

A BRCA1 and BRCA2 genetic test looks for inherited or tumor-acquired changes in two genes that repair damaged DNA. A germline pathogenic variant can...

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,...