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AKT1 Mutation Test: Breast Cancer, Solid Tumors, AKT Pathway, and Mutation Meaning

Learn what an AKT1 mutation test detects, what AKT1 E17K means, how results guide advanced breast cancer treatment, and how tumor and blood testing differ.

An AKT1 mutation test looks for DNA changes in the AKT1 gene, a key part of the PI3K-AKT-mTOR growth-signaling pathway. In cancer, the best-known...

ALK Fusion Test: Gene Fusion, Lung Cancer Marker, Positive Result, and Molecular Meaning

Learn what an ALK fusion test detects, how NGS, FISH, and IHC differ, what an ALK-positive lung cancer result means, and how it guides targeted therapy.

An ALK fusion test looks for a cancer-driving rearrangement involving the ALK gene, most often in non-small cell lung cancer (NSCLC). The classic example...

APC Mutation Test: Colon Cancer, Familial Adenomatous Polyposis, Variant Meaning, and Hereditary Risk

Learn how APC mutation testing relates to familial adenomatous polyposis, colon cancer risk, germline versus tumor variants, mosaicism, and family testing.

An APC mutation test looks for harmful changes in the APC gene, a tumor-suppressor gene that helps control cell growth through the Wnt/beta-catenin pathway....

ASXL1 Mutation Test: Myeloid Cancer, Prognosis, Mutation Status, and Risk Meaning

Learn what an ASXL1 mutation test means in AML, MDS, CMML, MPNs, and clonal hematopoiesis, including prognosis, VAF, and risk interpretation.

An ASXL1 mutation test looks for acquired DNA changes in the ASXL1 gene, an epigenetic regulator that is frequently altered in myeloid blood disorders....

ATM Mutation Test: DNA Repair Gene, Breast Cancer Risk, Prostate Cancer Risk, and Variant Meaning

Learn what an ATM mutation test means for DNA repair, hereditary breast and prostate cancer risk, tumor testing, variant classification, screening, and family follow-up.

An ATM mutation test looks for harmful changes in the ATM gene, which helps cells detect and respond to DNA double-strand breaks. A pathogenic...

BCL2 Rearrangement Test: Follicular Lymphoma, Double-Hit Lymphoma, and FISH Result

Learn what a BCL2 rearrangement FISH test means in follicular lymphoma, how t(14;18) is interpreted, and how MYC plus BCL2 defines double-hit disease.

A BCL2 rearrangement test looks for a structural chromosome change involving the BCL2 gene, most often by fluorescence in situ hybridization (FISH). In conventional...

BCL6 Rearrangement Test: Lymphoma, Prognosis, Rearrangement Status, and FISH Result

BCL6 rearrangement testing uses FISH to clarify lymphoma genetics, prognosis context, and MYC/BCL2-related classification; learn what positive and negative results mean.

A BCL6 rearrangement test looks for a structural chromosome change involving the BCL6 gene, usually with fluorescence in situ hybridization (FISH). BCL6 is a...

BCR-ABL1 Test: CML, Leukemia, Philadelphia Chromosome, and Molecular Monitoring

BCR-ABL1 testing diagnoses Philadelphia chromosome-positive CML and tracks molecular response; learn PCR levels, International Scale milestones, resistance, and monitoring.

A BCR-ABL1 test detects the BCR::ABL1 fusion gene or its RNA transcript, the defining molecular abnormality in chronic myeloid leukemia (CML) and an important...

BRAF Mutation Test: V600E, Melanoma, Colon, Thyroid, Lung Cancer, and Mutation Meaning

BRAF mutation testing identifies V600E and related drivers in melanoma, colon, thyroid, and lung cancer; understand methods, positive results, prognosis, and targeted therapy.

A BRAF mutation test checks a tumor for changes in the BRAF gene, most importantly the activating BRAF V600E variant. BRAF encodes a protein...

BRCA1 Mutation Test: Hereditary Cancer Risk, DNA Repair, Variant Meaning, and Family Risk

BRCA1 mutation testing identifies hereditary DNA-repair risk; learn pathogenic variant and VUS meaning, breast and ovarian cancer risks, family inheritance, and next steps.

A BRCA1 mutation test looks for inherited or tumor-acquired changes in the BRCA1 gene, a major DNA-repair gene and one of the best-established causes...

BRCA2 Mutation Test: Hereditary Cancer Risk, DNA Repair, Variant Meaning, and Family Risk

Understand BRCA2 mutation testing, hereditary cancer risk, DNA repair, pathogenic variants, VUS results, germline vs tumor findings, and family testing.

A BRCA2 mutation test looks for changes in the BRCA2 gene that can affect DNA repair and, in some cases, substantially raise the risk...

BTK Mutation Test: Leukemia, Lymphoma, Drug Resistance Marker, and Mutation Meaning

Learn what a BTK mutation test means in leukemia and lymphoma, including C481 and non-C481 resistance mutations, negative results, testing methods, and treatment relevance.

A BTK mutation test looks for acquired changes in the BTK gene that can help explain resistance to Bruton tyrosine kinase inhibitors in certain...

CALR Mutation Test: Myeloproliferative Neoplasm, Platelets, Myelofibrosis, and Result Meaning

Understand CALR mutation testing for essential thrombocythemia and myelofibrosis, including type 1 and type 2 variants, platelet findings, negative results, prognosis, and next steps.

A CALR mutation test looks for acquired changes in the calreticulin gene that help diagnose and classify certain BCR::ABL1-negative myeloproliferative neoplasms, especially essential thrombocythemia...

Cancer Gene Mutation Panel: Tumor Mutations, Gene Variants, Diagnostic Meaning, and Molecular Profiling

Learn how cancer gene mutation panels and molecular profiling work, what actionable and uncertain variants mean, how tissue and liquid biopsy differ, and when germline testing is needed.

A cancer gene mutation panel analyzes many cancer-related genes at the same time to identify molecular changes that may help classify a tumor, estimate...

CDK4 Amplification Test: Liposarcoma, Copy Number Gain, Cancer Marker, and Tumor Classification

Understand CDK4 amplification testing in liposarcoma, including copy-number gain, MDM2 co-amplification, FISH and NGS methods, result meaning, diagnosis, and treatment relevance.

A CDK4 amplification test looks for extra copies of the CDK4 gene in tumor cells. In soft-tissue pathology, this finding is most closely associated...

CEBPA Mutation Test: AML Prognosis, Risk Stratification, Mutation Status, and Meaning

Understand CEBPA mutation testing in AML, including bZIP in-frame mutations, ELN favorable-risk classification, prognosis, germline CEBPA, and how results affect treatment planning.

A CEBPA mutation test looks for acquired changes in the CEBPA gene that help classify acute myeloid leukemia (AML) and refine prognosis. CEBPA encodes...

CHEK2 Mutation Test: Breast, Colon, Prostate Cancer Risk, Variant Meaning, and Family Risk

Understand CHEK2 mutation testing, breast, colon, and prostate cancer risk, pathogenic variants versus VUS results, family inheritance, cascade testing, and screening implications.

A CHEK2 mutation test looks for inherited changes in the CHEK2 gene that can increase susceptibility to cancer, most clearly female breast cancer and,...

DDIT3 Fusion Test: Myxoid Liposarcoma, Gene Fusion, and Molecular Diagnosis

Understand DDIT3 fusion testing for myxoid liposarcoma, including FUS::DDIT3, EWSR1::DDIT3, FISH and RNA testing, positive and negative results, and diagnostic meaning.

A DDIT3 fusion test looks for a characteristic gene rearrangement that strongly supports the diagnosis of myxoid liposarcoma. Most myxoid liposarcomas contain a FUS::DDIT3...

EGFR Mutation Test: Exon 19, L858R, T790M, Mutation Status, and Lung Cancer Meaning

Understand EGFR mutation testing in lung cancer, including exon 19 deletions, L858R, T790M, exon 20 insertions, liquid biopsy, resistance, and treatment meaning.

An EGFR mutation test looks for changes in the epidermal growth factor receptor gene that can guide treatment in non-small cell lung cancer (NSCLC),...

EPCAM Deletion Test: Lynch Syndrome, Colon Cancer Risk, MSH2 Silencing, and Meaning

Understand EPCAM deletion testing for Lynch syndrome, including MSH2 silencing, colorectal cancer risk, MMR and MSI findings, family inheritance, and surveillance implications.

An EPCAM deletion test looks for inherited deletions at the 3′ end of the EPCAM gene that can cause Lynch syndrome by switching off...