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Understand ALK fusion testing in lung cancer, including what a positive or negative result means, tissue and ctDNA methods, limitations, and treatment relevance.

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

Understand BRAF V600E testing in lung cancer, including what a positive or negative result means, tissue and ctDNA methods, limitations, and treatment relevance.

BRAF V600E Test for Lung Cancer: Mutation Status, Positive Result, and Molecular Meaning

Learn how the carcinoembryonic antigen (CEA) test is used in lung cancer, what high levels can mean, common non-cancer causes, reference ranges, and why serial trends matter.

CEA Test for Lung Cancer: Tumor Marker Monitoring, High Levels, and Result Meaning

Learn how the cytokeratin 19 fragment 21-1 (CYFRA 21-1) test is used in lung cancer, what high levels can mean, common non-cancer causes, reference ranges, and why serial trends matter.

CYFRA 21-1 Test for Lung Cancer: Tumor Marker Levels and Disease Monitoring

Understand EGFR exon 20 insertion testing in lung cancer, including what a positive or negative result means, tissue and ctDNA methods, limitations, and treatment relevance.

EGFR Exon 20 Insertion Test: Lung Cancer Mutation Status and Molecular Meaning

Understand EGFR mutation testing in lung cancer, including what a positive or negative result means, tissue and ctDNA methods, limitations, and treatment relevance.

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

Diagnostics

Home Diagnostics Page 42

Learn how LRRK2, GBA1, SNCA, PRKN, PINK1, PARK7, and VPS35 testing is interpreted in Parkinson disease, including positive, carrier, VUS, and negative results.

Parkinson Disease Genetic Test: LRRK2, GBA, SNCA, PRKN, and Results

Learn what an Alzheimer disease polygenic risk score measures, how APOE and ancestry affect results, why percentiles are not probabilities, and where clinical limits remain.

Polygenic Risk Score (PRS) for Alzheimer Disease: Genetic Risk and Results

Learn how methylation, chromosomal microarray, maternal UPD testing, and imprinting-center analysis diagnose Prader-Willi syndrome and clarify recurrence risk.

Prader-Willi Syndrome Genetic Test: Methylation, Deletion, UPD, and Results

Learn what psychiatric pharmacogenetic tests can reveal about CYP2D6, CYP2C19, and antidepressant metabolism, why color bins have limits, and how to use results safely.

Psychiatric Pharmacogenetic Test: Depression, Anxiety, Medication Response, and Results

Learn how MECP2 sequencing, deletion testing, mosaicism, and result categories support a Rett syndrome diagnosis, family counseling, and care planning.

Rett Syndrome Genetic Test: MECP2 Gene Mutations and Results

Understand SMA genetic testing, including SMN1 and SMN2 copy number, silent-carrier risk, newborn screening, diagnostic results, and family next steps.

Spinal Muscular Atrophy (SMA) Genetic Test: SMN1, SMN2 Copy Number, and...

Learn how spinocerebellar ataxia CAG repeat testing works, what repeat ranges mean, why assay methods matter, and how results guide care and families.

Spinocerebellar Ataxia Genetic Test: CAG Repeat Expansions and Results

Learn how cell-free DNA testing is used for prenatal screening, cancer mutation analysis, and transplant monitoring, including result meanings, limitations, and follow-up.

Cell-Free DNA (cfDNA) Test: Prenatal Screening, Cancer, and Transplant Results

Understand how chromosomal microarray detects deletions and duplications, what pathogenic and uncertain CNV results mean, what CMA misses, and when follow-up testing is needed.

Chromosomal Microarray Test: Copy Number Variants, Deletions, and Duplications

Learn how copy number variant tests detect deletions and duplications, how methods differ, what pathogenic and uncertain CNV results mean, and which follow-up tests may be needed.

Copy Number Variant (CNV) Test: Deletions, Duplications, and Results

Learn how deletion/duplication genetic testing finds missing or extra exons, how MLPA and NGS dosage analysis work, and what positive, negative, and uncertain results mean.

Deletion/Duplication Genetic Test: Copy Number Variants and Results

Learn how digital PCR detects rare mutations and measures copy number, including partition counting, detection limits, result units, false signals, and follow-up.

Digital PCR (dPCR) Test: Low-Level Mutations, Copy Number, and Results

Learn how FISH testing uses fluorescent probes to detect gene deletions, duplications, amplifications, and fusions, including signal patterns, cutoffs, and limitations.

Fluorescence In Situ Hybridization (FISH) Test: Gene Deletions, Duplications, Fusions, and...

Gene fusion testing detects cancer-related rearrangements that can clarify diagnosis and guide targeted therapy; learn how RNA, DNA, FISH, PCR, and results differ.

Gene Fusion Test: Cancer Rearrangements, Fusion Genes, and Results

Karyotype testing counts chromosomes and detects large structural changes; understand balanced rearrangements, mosaicism, notation, limitations, and next steps.

Karyotype Test: Chromosome Number, Structure, and Results

Liquid biopsy testing analyzes circulating tumor DNA for cancer mutations, treatment targets, resistance, and residual disease; learn how positive and negative results differ.

Liquid Biopsy Test: Circulating Tumor DNA, Cancer Mutations, and Results

Loss of heterozygosity testing identifies locus-specific or genome-wide allelic loss in tumors; learn about copy-neutral LOH, HRD scores, limitations, and results.

Loss of Heterozygosity (LOH) Test: Tumor Genetics and Results

Methylation genetic testing detects imprinting abnormalities, constitutional episignatures, and cancer profiles; learn how methods, mosaicism, and result types differ.

Methylation Genetic Test: Imprinting Disorders, Cancer, and Results

Microsatellite instability testing evaluates mismatch repair in tumors for treatment and Lynch syndrome screening; learn about MSI-high, MSS, IHC, and follow-up.

Microsatellite Instability (MSI) Test: DNA Repair, Cancer Risk, and Results

Mitochondrial DNA sequencing detects mtDNA variants and heteroplasmy; learn how tissue choice, maternal inheritance, deletions, VUS findings, and negative results affect interpretation.

Mitochondrial DNA Sequencing Test: mtDNA Mutations and Results

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