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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

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Multigene panel testing analyzes inherited disease and cancer genes together; learn how panel selection, coverage, pathogenic variants, VUS findings, and negative results are interpreted.

Multigene Panel Test: Inherited Disease Genes, Cancer Genes, and Results

MLPA testing detects targeted gene deletions and duplications; learn how the assay works, how results are interpreted, why findings need confirmation, and what a negative result means.

Multiplex Ligation-Dependent Probe Amplification (MLPA) Test: Gene Deletions, Duplications, and Results

Understand how next-generation sequencing tests analyze gene panels, exomes, and genomes, what pathogenic, negative, and VUS results mean, and where NGS can miss variants.

Next-Generation Sequencing (NGS) Test: Gene Panels, Variants, and Results

Learn how PCR tests amplify DNA or RNA, what positive, negative, Ct, and invalid results mean, and why sample quality, timing, and assay design affect accuracy.

Polymerase Chain Reaction (PCR) Test: DNA Amplification, Variants, and Results

Understand how real-time PCR detects genetic variants and viral DNA, how Ct, Cq, and viral-load values are interpreted, and why assay design and sample quality affect results.

Real-Time PCR (qPCR) Test: Genetic Variants, Viral DNA, and Results

Learn how CAG, CGG, CTG, and other repeat expansion tests work, how repeat counts are classified, and what positive, intermediate, premutation, and negative results mean.

Repeat Expansion Test: CAG, CGG, CTG Repeats, and Results

Understand how RNA expression panels measure tumor gene activity, create recurrence or risk scores, and guide selected cancer-treatment decisions while accounting for sample quality and limitations.

RNA Expression Panel Test: Gene Activity, Cancer Risk, and Results

Sanger sequencing reads targeted gene regions to find or confirm small DNA variants. Understand chromatograms, result categories, limitations, and follow-up testing.

Sanger Sequencing Test: Single-Gene Variants and Results

Single-gene sequencing searches one selected gene for DNA variants. Learn when focused testing is useful, what results mean, what may be missed, and next steps.

Single-Gene Sequencing Test: DNA Variants, Diagnosis, and Results

SNP genotyping tests selected DNA markers for traits, medication response, and disease risk. Learn how genotypes and polygenic scores work, their limits, and follow-up.

SNP Genotyping Test: DNA Variants, Risk Markers, and Results

Structural variant tests detect inversions, translocations, and complex chromosome changes. Learn which methods find balanced and unbalanced events and what results mean.

Structural Variant Genetic Test: Inversions, Translocations, and Results

Targeted variant testing checks relatives for a known family mutation. Learn who should test, what positive and true-negative results mean, and how to follow up.

Targeted Variant Test: Known Mutation, Family Testing, and Results

Genetic variant classification labels findings as pathogenic, likely pathogenic, VUS, likely benign, or benign. Learn the evidence behind each category and reclassification.

Variant Classification in Genetic Testing: Pathogenic, Benign, VUS, and Results

Whole-exome sequencing examines most coding DNA for rare disease variants. Learn how WES works, what trio results mean, what it can miss, and when reanalysis helps.

Whole-Exome Sequencing (WES) Method: Coding DNA, Variants, and Results

Whole-genome sequencing detects coding, noncoding, copy-number, and structural DNA variants. Learn how WGS works, what results mean, its blind spots, and reanalysis.

Whole-Genome Sequencing (WGS) Method: DNA Variants, Structural Changes, and Results

Understand the achondroplasia FGFR3 genetic test, including common p.Gly380Arg variants, result meanings, inheritance risks, testing methods, and follow-up.

Achondroplasia Genetic Test: FGFR3 Gene Mutation and Results

Learn how SERPINA1 genetic testing confirms alpha-1 antitrypsin deficiency, explains MM, MZ, SZ, and ZZ results, and guides lung, liver, and family follow-up.

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

Understand alpha-thalassemia HBA1 and HBA2 testing, including deletions, cis and trans carrier results, hemoglobin H disease, partner risk, and pregnancy follow-up.

Alpha-Thalassemia Genetic Test: HBA1, HBA2 Deletions, Carrier Risk, and Results

Learn how COL4A3, COL4A4, and COL4A5 testing diagnoses Alport syndrome, distinguishes inheritance patterns, explains VUS and negative results, and guides kidney and family care.

Alport Syndrome Genetic Test: COL4A3, COL4A4, COL4A5, and Results

Understand Ashkenazi Jewish carrier screening panels, common conditions, founder versus expanded testing, carrier results, residual risk, partner testing, and reproductive options.

Ashkenazi Jewish Genetic Carrier Screening Panel: Common Conditions and Results

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