Molecular Diagnostics: Fundamentals, Methods, and Clinical Applications, 3rd Edition
By Lela Buckingham
About this ebook
Molecular Diagnostics: Fundamentals, Methods, and Clinical Applications, Third Edition, introduces nucleic acid testing from molecular principles to laboratory use. Lela Buckingham covers extraction, amplification, detection, sequencing, quality control, and applications in inherited disease, oncology, infection, and identity testing for clinical laboratory science students and professionals studying molecular methods.
Inside this title
Nucleic acid extraction, purification, amplification, and detection principles
Current listed price $31.99Regular price $81.00Digital ebook
DNA and RNA structure, genome organization, and gene expression supply the background for the laboratory methods presented here. Extraction and purification lead into amplification techniques, including PCR and its variants, followed by electrophoresis, hybridization, fluorescence-based detection, and sequencing. Methodological discussion includes sample quality and the factors that affect interpretation.
Clinical sections examine mutation analysis, inherited disorders, tumor-associated changes, infectious disease testing, and human identification. Quality control and regulatory topics place these methods within the responsibilities of diagnostic laboratories. Learning objectives, cases, and review questions provide a study structure for clinical laboratory science and medical technology courses. Professionals expanding into molecular testing can also use the third edition to connect analytical procedures with their diagnostic purposes.
Study guide included
Inside Molecular Diagnostics: Fundamentals, Methods, and Clinical Applications, 3rd Edition.
A clinical laboratory text that treats molecular testing as a chain of decisions rather than a single instrument. Lela Buckingham follows specimens from collection through extraction, amplification, sequencing, and reporting, showing how target choice, controls, and quality records determine what a result can responsibly claim.
The book starts with nucleic acid and protein structure, gene expression, and epigenetic regulation. It then walks through extraction, measurement, hybridization, amplification, chromosome analysis, mutation screening, and sequencing, pausing to explain what each step can and cannot reveal. Later chapters set out the evidence required for identity work, infection, inherited conditions, cancer, and tissue matching. A closing chapter covers quality assurance and control across preanalytical, analytical, and postanalytical stages, so the whole workflow becomes reviewable. Illustrations and case-style questions accompany the methods throughout.
Choosing Between Sequence and Expression
Complementarity between bases explains why primers and probes recognize chosen targets. The opening chapters also separate DNA-level information from RNA-level activity: a genomic test does not reveal transcript amount, and an expression assay cannot confirm base order. Methylation, histone modification, and noncoding RNA add another layer, changing behavior without altering the sequence, so each question must name the layer being studied.
Probes and primers rely on base complementarity
Genomic and transcript questions need different specimens
Epigenetic changes alter use, not sequence
Chs. 1–2, Nucleic Acids and Proteins and Gene Expression and Epigenetics (pp. 2, 57)
Specimen Handling, Extraction, and Detection
Preparation decides whether anything can be measured at all. Collection, storage, and processing affect yield and integrity, and DNA isolation differs from RNA isolation. Spectrophotometry, fluorometry, electrophoresis, and microfluidic systems each report a different property of an extract. Separation by size and capture through hybridization depend on controlled conditions, so a signal reflects both the sample and the method applied to it.
Handling before analysis limits what later steps recover
Yield and integrity are separate measures
Each quantification method reports a different property
Chs. 3–5, Extraction, Resolution, and Characterization (pp. 78, 97, 112)
Amplification Signals and Run Controls
PCR multiplies a chosen region, and transcription-based schemes add alternatives, while some designs amplify the probe or its signal instead of the target. That difference matters when a strong response is interpreted. Because sensitivity is high, contamination control becomes central. Controls answer stage-specific questions, and a failed internal control may indicate inhibition or degradation rather than a true absence of target.
Target, probe, and signal amplification differ
Sensitivity raises the cost of contamination
Controls address particular failure modes
No signal may mean inhibition, not absence
Ch. 6, Nucleic Acid Amplification (p. 142)
Resolution Limits for Variants and Sequencing
How large a possible alteration is points to a suitable technique. Karyotyping reveals large numerical or structural changes, fluorescent probes examine a chosen locus, and genomic hybridization comparisons flag gains and losses. Smaller substitutions call for sequencing-based methods with different scope. Reading base order is only part of the work; analysis sorts reads, evaluates quality, and weighs uncertain associations, so technical adequacy and interpretive meaning should be judged apart.
Karyotypes detect large structural change
FISH interrogates one selected locus
Panel scope defines the detectable range
Adequate sequence data need separate interpretation
Chs. 7–9, Chromosomal Mutations, Gene Mutations, and DNA Sequencing (pp. 179, 199, 223)
Clinical Questions Across Laboratory Settings
Similar chemistry serves different purposes. Short tandem repeat profiles can compare identities or trace contributions from donor and recipient, and microbial assays may target a known sequence or a resistance marker. Inherited disease testing ranges from a single pathogenic variant to broad scanning. Oncology covers mutations and rearrangements, while HLA typing depends on nomenclature and population variation, so the clinical question governs interpretation.
Same technique, different question, different limits
Resistance markers require contextual reading
HLA comparison depends on nomenclature
Technical detection by itself cannot settle the clinical question
Chs. 10–14, Techniques in the Clinical Laboratory (p. 259)
Quality Systems From Start to Finish
Quality assurance covers the wider framework of rules and records; quality control monitors stated performance measures. Before analysis, review collection, labeling, storage, and suitability. Analytical review looks at instruments, calibration, reagents, and controls. Postanalytical review covers evaluation, documentation, and communication. Splitting the stages helps locate the source of an unexpected finding, and oversight cannot rescue an unsuitable specimen or a method used beyond its validated scope.
Separate preanalytical, analytical, and postanalytical review
Records make a result auditable later
Validated scope bounds what a method can claim
Clear reports name evidence and blind spots
Ch. 15, Quality Assurance and Quality Control in the Molecular Laboratory (p. 446)
Chapter and section map
Gene Expression and EpigeneticsCh. 2 · p. 57
Nucleic Acid Extraction MethodsCh. 3 · p. 78
Nucleic Acid AmplificationCh. 6 · p. 142
Chromosomal Structure and Chromosomal MutationsCh. 7 · p. 179
DNA SequencingCh. 9 · p. 223
Detection and Identification of MicroorganismsCh. 11 · p. 301
Molecular OncologyCh. 13 · p. 369
Quality Assurance and Quality ControlCh. 15 · p. 446
Key takeaways
Decide what kind of answer is needed — base order, transcript level, chromosome layout, or individual identity — before picking a sample and technique.
When signal is absent, distinguish control failure, inhibition, and a target outside detection limits.
Note how the assay was run and what the sample contained, so others can weigh the finding against its limits.
Students of clinical laboratory science, working technologists, and pathology or genetics trainees who need a practical bridge between molecular principles and bench workflows and reporting.
Topics covered
molecular diagnostics
nucleic acid testing
PCR controls
DNA sequencing
clinical laboratory
quality assurance
molecular oncology
HLA typing
Questions about this ebook.
Edition, audience, and study-guide details at a glance.
What is Molecular Diagnostics: Fundamentals, Methods, and Clinical Applications, 3rd Edition about?
Molecular Diagnostics: Fundamentals, Methods, and Clinical Applications, Third Edition, introduces nucleic acid testing from molecular principles to laboratory use. Lela Buckingham covers extraction, amplification, detection, sequencing, quality control, and applications in inherited disease, oncology, infection, and identity testing for clinical laboratory science students and professionals studying molecular methods.
Which edition of Molecular Diagnostics: Fundamentals, Methods, and Clinical Applications, 3rd Edition is this?
This listing is for the 3rd edition. Check the title, ISBN, and book details above before ordering, especially if your course or reading list names a specific edition.
Who is Molecular Diagnostics: Fundamentals, Methods, and Clinical Applications, 3rd Edition for?
Students of clinical laboratory science, working technologists, and pathology or genetics trainees who need a practical bridge between molecular principles and bench workflows and reporting.
Does this page include a study guide?
Yes. This page includes an original study guide with six thematic sections, key takeaways, and a chapter and section map for structured reading.
