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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 48

Understand genetic screening tests, disease-risk estimates, positive and negative results, false results, residual risk, and the follow-up needed for confirmation.

Genetic Screening Test: Disease Risk, Results, and What It Means

Explore genetic testing types, benefits, risks, accuracy, positive and negative results, uncertain variants, privacy issues, and how to choose appropriate follow-up.

Genetic Testing: Types, Benefits, Risks, Results, and What They Mean

Understand pathogenic, likely pathogenic, benign, likely benign, and VUS genetic test results, including classification evidence, family testing, and reclassification.

Genetic Variant Test: Pathogenic, Benign, VUS, and Results Explained

Learn how germline genetic testing identifies inherited variants, explains family risk, distinguishes positive and negative results, and guides cascade testing and follow-up.

Germline Genetic Testing: Inherited Mutations, Family Risk, and Results

Understand what an mtDNA test detects, how heteroplasmy and tissue choice affect results, what maternal inheritance means, and what to do after a positive, uncertain, or negative finding.

Mitochondrial DNA (mtDNA) Test: Mutations, Inheritance, and Results

Learn how newborn genetic screening works, which conditions it checks, what abnormal and normal results mean, and how repeat testing and urgent follow-up protect a baby’s health.

Newborn Genetic Screening Test: Conditions, Results, and Follow-Up

Understand how pharmacogenetic testing links gene variants to medication response, how metabolizer results are interpreted, which gene–drug pairs are actionable, and how to use results safely.

Pharmacogenetic Testing: Medication Response, Gene Variants, and Results

Learn how a polygenic risk score combines DNA markers, what percentiles and absolute risk mean, where PRS testing may help, and why ancestry, calibration, and clinical context matter.

Polygenic Risk Score (PRS) Test: Disease Risk, DNA Markers, and Results

Understand predictive genetic testing, including who may benefit, why an affected relative is usually tested first, what positive and negative results mean, and how results affect care and family.

Predictive Genetic Testing: Disease Risk, Results, and What It Means

Compare prenatal genetic screening with CVS and amniocentesis, understand cell-free DNA and diagnostic results, and learn how timing, test scope, false positives, and follow-up affect care.

Prenatal Genetic Testing: Screening, Diagnosis, Risk, and Results

Understand presymptomatic genetic testing, who may consider it, how positive and negative results affect inherited disease risk, and what happens next.

Presymptomatic Genetic Testing: Inherited Disease Risk and Results

Learn how single-gene genetic tests work, what pathogenic, negative, and VUS results mean, how they affect disease risk, and why test method matters.

Single-Gene Genetic Test: Mutation Results, Disease Risk, and Meaning

Learn how somatic genetic testing finds tumor mutations, guides cancer treatment, uses tissue or liquid biopsy, and distinguishes actionable from uncertain results.

Somatic Genetic Testing: Tumor Mutations, Cancer Treatment, and Results

Understand tumor genomic testing, how cancer mutations are matched to targeted therapy, what result categories mean, and why an actionable target may not work.

Tumor Genomic Testing: Cancer Mutations, Targeted Therapy, and Results

Learn what a variant of uncertain significance means, why VUS results occur, what they should not change, how reclassification works, and what to ask next.

Variant of Uncertain Significance (VUS): Genetic Test Results and Meaning

Understand whole-exome sequencing, who may benefit, how trio analysis works, what positive and negative results mean, and why reanalysis can find answers later.

Whole-Exome Sequencing (WES) Test: Genetic Diagnosis, Variants, and Results

Understand what whole-genome sequencing tests, what positive, negative, and uncertain WGS results mean, its limitations, disease-risk findings, privacy issues, and next steps.

Whole-Genome Sequencing (WGS) Test: DNA Variants, Disease Risk, and Results

Learn how X-linked genetic tests identify variants, how inheritance and carrier risk work, what positive, negative, and VUS results mean, and which follow-up steps matter.

X-Linked Genetic Test: Inheritance Pattern, Carrier Risk, and Results

Learn how SERPINA1 genetic testing, AAT blood levels, and protein phenotyping diagnose alpha-1 antitrypsin deficiency and guide lung, liver, and family follow-up.

Alpha-1 Antitrypsin Deficiency Genetic Test: SERPINA1, Liver, Lung, and Results

Understand how APOB genetic testing can identify LDL-raising familial hypercholesterolemia or LDL-lowering hypobetalipoproteinemia and how results guide treatment and family screening.

APOB Genetic Test: High LDL Cholesterol, Heart Risk, and Results

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