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    Molecular Testing Methods

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    Molecular testing methods reveal changes in DNA and RNA that can help diagnose inherited conditions, characterize cancer, detect infections, assess treatment targets, and clarify health risks. This category explains how widely used techniques work, what they can detect, and how their results are interpreted in clinical care. Explore targeted approaches such as PCR, qPCR, digital PCR, Sanger sequencing, single-gene sequencing, and known-variant testing, as well as broader methods including next-generation sequencing, multigene panels, whole-exome sequencing, and whole-genome sequencing. You will also find clear guides to RNA sequencing, gene-expression panels, SNP genotyping, repeat-expansion testing, methylation analysis, chromosomal microarrays, copy-number testing, FISH, karyotyping, structural-variant analysis, and mitochondrial DNA sequencing. Each guide covers sample types, accuracy, limitations, possible findings, and the meaning of positive, negative, uncertain, or inconclusive results. Topics also include gene fusions, liquid biopsy, cell-free DNA, cancer biomarkers, family testing, and variant classification. Practical explanations highlight why different tests may produce different answers and when confirmatory or follow-up testing may be needed. Use these resources to compare testing options, prepare informed questions for your healthcare team, and better understand how molecular evidence supports diagnosis, monitoring, prognosis, and personalized treatment.
    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

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