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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...

ESR1 Mutation Test: Breast Cancer, Hormone Resistance Marker, Mutation Status, and Recurrence

Learn what an ESR1 mutation test means in breast cancer, how ctDNA testing detects hormone resistance, how results affect treatment, and how ESR1 relates to recurrence.

An ESR1 mutation test looks for acquired changes in the ESR1 gene, which encodes estrogen receptor alpha. In breast cancer, these mutations matter mainly...

EWSR1 Fusion Test: Sarcoma, Ewing Tumor, Gene Fusion, and Tumor Classification

EWSR1 Fusion Test Sarcoma, Ewing Tumor, Gene Fusion, and Tumor Classification

An EWSR1 fusion test looks for a rearrangement involving the EWSR1 gene, a molecular event found in Ewing sarcoma and several other bone and...

EZH2 Mutation Test: Lymphoma, Mutation Status, Prognosis, and Molecular Meaning

Learn what an EZH2 mutation test means in follicular lymphoma, how positive and negative results are interpreted, and how the 2026 tazemetostat withdrawal changes treatment relevance.

An EZH2 mutation test looks for tumor DNA changes in EZH2, a gene that controls how other genes are switched on and off through...

FGFR3 Mutation Test: Bladder Cancer, Mutation Status, and Molecular Meaning

Learn what an FGFR3 mutation test means in bladder cancer, which FGFR3 alterations are actionable, how tissue and ctDNA testing work, and how results can guide treatment.

An FGFR3 mutation test looks for activating changes in the FGFR3 gene, an important molecular driver in many urothelial bladder cancers. FGFR3 alterations are...

FUS Fusion Test: Sarcoma Gene Fusion, Tumor Classification, and Molecular Result

Learn what a FUS fusion test detects in sarcoma, what FUS::DDIT3 and FUS::CREB3L2 mean, how testing is performed, and how results guide tumor classification.

A FUS fusion test looks for an abnormal rearrangement involving the FUS gene, usually in a tumor sample. The result can be highly informative...

Gene Fusion Panel Test: Cancer Fusions, Rearrangement Markers, and Molecular Tumor Classification

Learn how a gene fusion panel detects cancer rearrangements, why RNA-based NGS is useful, what positive and negative results mean, and how fusions can guide tumor classification and targeted therapy.

A gene fusion panel tests a tumor for abnormal gene pairings created when chromosomes rearrange. These fusions can act as cancer drivers, help identify...

HER2/ERBB2 Mutation Test: Breast, Gastric, Lung Cancer, Mutation Status, and HER2 Meaning

Learn what a HER2/ERBB2 mutation test means in lung, breast, and gastric cancer, how mutations differ from HER2 amplification or IHC, and how results can guide targeted treatment.

A HER2/ERBB2 mutation test looks for DNA changes in the ERBB2 gene, which encodes the HER2 receptor. The result is not the same as...

Homologous Recombination Deficiency (HRD) Test: DNA Repair Deficiency, Ovarian Cancer, and Genomic Score

Learn what an HRD test measures in ovarian cancer, how genomic instability scores and BRCA status are interpreted, what HRD-positive means, and how results can inform PARP inhibitor treatment decisions.

A homologous recombination deficiency, or HRD, test looks for evidence that a tumor has lost an important high-accuracy DNA repair pathway. In ovarian cancer,...

HRAS Mutation Test: Head and Neck Cancer, Thyroid Cancer, Mutation Status, and Meaning

Learn what an HRAS mutation test means in head and neck cancer and thyroid disease, how hotspot and VAF results are interpreted, and why a positive HRAS result has different implications by tumor type.

An HRAS mutation test looks for activating DNA changes in the HRAS gene, one of the RAS family genes that control cell growth signaling....

IDH1 Mutation Test: Glioma, Leukemia, Cholangiocarcinoma, Mutation Status, and Meaning

Learn what an IDH1 mutation test means in glioma, AML, and cholangiocarcinoma, how R132 mutations are detected, and how positive results can affect diagnosis and targeted treatment.

An IDH1 mutation test looks for abnormal changes in the IDH1 gene, most commonly at amino acid R132. These mutations alter cell metabolism and...

IDH2 Mutation Test: Leukemia, Glioma, Cholangiocarcinoma, Mutation Status, and Meaning

Understand what an IDH2 mutation test means in AML, glioma, and cholangiocarcinoma, including positive and negative results, treatment relevance, testing methods, and important limitations.

An IDH2 mutation test looks for specific changes in the IDH2 gene that can help classify a tumor, explain part of its biology, and...

KIT Mutation Test: GIST, Melanoma, Mast Cell Disease, Mutation Status, and Meaning

Learn what a KIT mutation test means in GIST, melanoma, and mast cell disease, including exon-specific results, KIT D816V, treatment relevance, CD117 differences, and testing limitations.

A KIT mutation test looks for DNA changes that activate the KIT receptor tyrosine kinase. The result can be highly important, but its meaning...