Molecular Diagnostics
Nucleic acid tests, amplification methods, and molecular laboratory workflows.
Concise Molecular Diagnostics laboratory test references for rapid Medical Laboratory Science lookup: specimen requirements, methods, reference values, interpretation, and laboratory pearls.
32 references in this catalogue
Catalogue references
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BCR-ABL
Detection and quantification of BCR-ABL1 fusion transcripts; essential for diagnosing and monitoring chronic myeloid leukemia (and selected ALL) on the International Scale.
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BRAF Mutation
Somatic BRAF mutation testing (commonly V600E/K); guides therapy in melanoma, hairy cell leukemia, colorectal cancer algorithms, and other tumors.
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Carrier Screening
Targeted or expanded genotyping/NGS to identify heterozygous carriers of autosomal recessive (and selected X-linked) conditions for reproductive risk assessment.
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Chromosomal Microarray
Genome-wide copy-number analysis (and often SNP genotyping) detecting deletions/duplications; first-tier developmental cytogenomic test in many guidelines.
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CMV PCR
Quantitative or qualitative CMV DNA testing; monitors CMV in transplant and immunocompromised patients; plasma viral load preferred for many protocols.
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Conventional PCR
Endpoint polymerase chain reaction amplifying a DNA target, detected after cycling by gel electrophoresis or similar; foundational nucleic acid amplification method.
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CT/NG NAAT
Nucleic acid amplification testing for Chlamydia trachomatis and Neisseria gonorrhoeae; preferred laboratory method for screening and diagnosis of these STIs.
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Digital PCR
Partition-based absolute quantification of nucleic acids without standard curves; used for precise rare-variant and low-level target measurement.
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EBV PCR
Quantitative EBV DNA testing; monitors EBV-related risk after transplant (PTLD surveillance) and selected immunocompromised states.
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EGFR Mutation
Somatic EGFR mutation testing in non-small cell lung cancer; identifies TKI-sensitizing and resistance variants to guide targeted therapy.
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Factor V Leiden
Targeted genotyping for the F5 c.1601G>A (p.Arg534Gln) variant associated with activated protein C resistance and increased venous thrombosis risk.
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FISH
Fluorescence in situ hybridization detecting chromosomal gains, losses, and rearrangements on cells or tissue sections using fluorescent probes.
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HBV DNA
Quantitative hepatitis B virus DNA viral load; stages and monitors chronic HBV infection with serology and ALT.
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HCV RNA
Qualitative or quantitative hepatitis C virus RNA; confirms current HCV infection after antibody screening and monitors treatment.
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HIV Viral Load
Quantitative HIV-1 RNA assay reporting IU/mL or copies/mL; monitors antiretroviral therapy and diagnoses acute infection in algorithms with serology.
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HPV DNA Testing
Nucleic acid detection of high-risk human papillomavirus types from cervical (or other validated) specimens; central to cervical cancer screening algorithms.
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JAK2 Mutation
Targeted testing for JAK2 V617F (and exon 12 variants when indicated); major molecular criterion in BCR-ABL1-negative myeloproliferative neoplasms.
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KRAS Mutation
Somatic KRAS mutation testing; predicts lack of benefit from anti-EGFR antibodies in colorectal cancer and informs NSCLC/other oncology pathways.
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MLPA
Multiplex ligation-dependent probe amplification detecting exon-level copy-number changes; complementary to sequencing for deletions/duplications.
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Multiplex PCR
Simultaneous amplification of multiple targets in one reaction; basis of syndromic panels and multi-pathogen respiratory/GI assays.
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Mutation Detection
Umbrella laboratory approach for identifying pathogenic sequence variants; methods include allele-specific PCR, melting analysis, Sanger, NGS, and digital PCR depending on the clinical question.
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Next-Generation Sequencing (NGS)
Massively parallel sequencing of gene panels, exomes, genomes, or transcriptomes; cornerstone of modern germline and somatic molecular diagnostics.
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NPM1 / FLT3 Testing
Molecular testing for NPM1 mutations and FLT3 ITD/TKD in acute myeloid leukemia; risk stratification and targeted therapy eligibility.
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Pharmacogenomic Testing
Genotyping of drug-metabolizing enzymes and drug targets (e.g., CYP2C19, CYP2D6, TPMT, DPYD, HLA-B) to support medication selection and dosing per CPIC/DPWG-style guidance.
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Prothrombin G20210A
Targeted genotyping for F2 c.*97G>A (G20210A) in the prothrombin 3′ untranslated region; a common inherited thrombophilia marker often paired with Factor V Leiden testing.
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Real-Time Polymerase Chain Reaction (qPCR)
PCR with continuous fluorescence monitoring during cycling for qualitative and quantitative nucleic acid testing.
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Respiratory Viral PCR Panels
Multiplex NAAT detecting multiple respiratory viruses (and sometimes atypical bacteria) from a single swab; syndromic testing for acute respiratory illness.
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RT-PCR
Reverse-transcription PCR converting RNA to cDNA before amplification; required for RNA viruses and gene-expression targets.
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Sanger Sequencing
Dideoxy chain-termination sequencing of a PCR amplicon; gold-standard confirmation for many single-gene variants and small regions.
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SARS-CoV-2 PCR
Nucleic acid amplification test detecting SARS-CoV-2 RNA; preferred laboratory method for diagnosing acute COVID-19 when clinically indicated.
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STR Analysis
Short tandem repeat profiling by multiplex PCR and capillary electrophoresis; used for identity, chimerism, and sample tracking applications.
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Tuberculosis PCR
NAAT for Mycobacterium tuberculosis complex (e.g., GeneXpert MTB/RIF-class assays) with optional rifampin-resistance detection; rapid adjunct to AFB smear and culture.
Frequently Asked Questions
Common questions about using this Molecular Diagnostics laboratory test catalogue Medical Laboratory Library reference in Medical Laboratory Science education.
What Molecular Diagnostics laboratory tests are in this catalogue?
This Medical Laboratory Library catalogue lists published Molecular Diagnostics laboratory tests for rapid reference lookup, including specimen, method, reference values, and interpretation sections where available.
How should Medical Laboratory Science students use this Molecular Diagnostics library?
Use it as a medical laboratory reference while studying Molecular Diagnostics. Look up a test quickly, then continue into Academy lessons or medical laboratory quizzes for deeper learning.
What information appears on each laboratory test page?
Each published page is structured for lookup: overview, clinical importance, specimen requirements, analytical method, reference values, interpretation, clinical significance, related laboratory tests, and references when present.
Are these laboratory reference values universal?
No. Laboratory reference values depend on method and population. Confirm intervals with your institutional laboratory protocols before clinical use.
How do I find related Molecular Diagnostics Academy lessons?
Open an individual laboratory test page for Continue learning links, or visit the Molecular Diagnostics Academy discipline pathway for structured Medical Laboratory Science courses.
Can I search within this discipline?
Return to the Laboratory Library hub search, or browse the cards in this catalogue by test name. The hub search covers laboratory tests across disciplines.
Is this catalogue a medical laboratory encyclopedia only?
This discipline catalogue focuses on laboratory tests. The broader Library also includes additional reference collections such as cells, markers, and foundational topics.