Molecular Biology Test Directory
Explore molecular diagnostic tests, genetic investigations, pathogen detection, cancer biomarkers and pharmacogenomic testing. Understand the principles, clinical applications, specimen requirements and limitations of modern molecular diagnostics.
What is molecular diagnostic testing?
Molecular diagnostics examines DNA, RNA and other molecular targets to help detect infectious agents, identify genetic variants, characterize cancers and support treatment decisions. Depending on the clinical question, investigations may use PCR, real-time PCR, RT-PCR, digital PCR, sequencing, MLPA or other validated methods.Use this directory: Search by test name, gene, pathogen, biomarker, technology or clinical application.
Hepatitis B Virus (HBV) DNA Quantification
Measures HBV DNA to assess viral replication and support treatment monitoring.
Clinical details
Specimen: Serum or plasma, according to the validated assay.
Application: Viral load assessment, treatment monitoring and evaluation of virological response.
Interpretation: Correlate with HBsAg, HBeAg/anti-HBe, ALT and clinical findings.
Hepatitis C Virus (HCV) RNA
Detects and quantifies HCV RNA to establish active infection and monitor antiviral treatment.
Clinical details
Specimen: Serum or plasma as specified by the assay.
Application: Confirmation of current viraemia and treatment-response assessment.
Note: Antibody positivity alone does not establish current viraemia.
HIV-1 RNA Viral Load
Quantifies HIV-1 RNA for monitoring viral suppression and treatment response.
Clinical details
Specimen: Validated plasma specimen.
Application: Antiretroviral therapy monitoring and assessment of virological response.
Note: Use appropriate diagnostic algorithms for HIV diagnosis; viral load is not interchangeable with every diagnostic assay.
High-Risk HPV DNA / Genotyping
Detects oncogenic human papillomavirus types associated with cervical precancer and cancer.
Clinical details
Specimen: Clinically validated cervical sample or other approved specimen.
Application: Cervical cancer screening and risk stratification within approved clinical pathways.
Note: Genotype reporting depends on the assay; a positive result does not itself diagnose cancer.
Mycobacterium tuberculosis Detection
Detects Mycobacterium tuberculosis complex; selected assays also detect mutations associated with drug resistance.
Clinical details
Specimen: Depends on disease site and assay, such as sputum or another validated specimen.
Application: Rapid support for TB diagnosis and, where validated, rifampicin-resistance assessment.
Note: Molecular resistance results may require culture and additional drug-susceptibility testing.
Chlamydia & Gonorrhoea NAAT
Detects Chlamydia trachomatis and Neisseria gonorrhoeae using nucleic acid amplification testing.
Clinical details
Specimen: Validated urine, swab or site-specific specimen.
Application: Diagnosis of selected sexually transmitted infections.
Note: Specimen choice and extragenital testing depend on assay clearance and laboratory validation.
Alpha-Thalassemia Molecular Analysis
Investigates deletions, duplications and selected sequence variants affecting alpha-globin genes.
Clinical details
Specimen: EDTA whole blood for germline DNA, as validated.
Application: Investigation of unexplained microcytosis, suspected alpha-thalassemia and reproductive risk assessment.
Note: The strategy should address common deletions and relevant non-deletional variants. A negative result does not exclude every pathogenic variant.
Beta-Thalassemia Mutation Analysis
Identifies pathogenic variants in the beta-globin gene to support diagnosis and carrier detection.
Clinical details
Specimen: EDTA whole blood.
Application: Molecular confirmation, carrier assessment and family or prenatal risk evaluation.
Note: Interpret with CBC, iron studies, haemoglobin analysis and family history.
Spinal Muscular Atrophy (SMA)
Evaluates SMN1 copy number and, where indicated, sequence variants associated with SMA.
Clinical details
Specimen: Validated germline DNA specimen.
Application: Diagnostic work-up and carrier screening in appropriate settings.
Note: SMN1 copy-number testing alone may not detect all carriers or sequence variants. SMN2 copy number has a separate clinical role.
Duchenne / Becker Muscular Dystrophy
Investigates pathogenic variants in the dystrophin gene, including exon-level deletions and duplications.
Clinical details
Specimen: Validated DNA specimen.
Application: Molecular diagnosis, family testing and carrier assessment.
Note: Testing usually includes copy-number analysis followed by sequencing when indicated.
Cystic Fibrosis Genetic Testing
Detects disease-associated variants in CFTR in appropriate diagnostic or carrier-screening settings.
Clinical details
Specimen: Validated germline DNA specimen.
Application: Diagnostic evaluation and reproductive carrier screening when indicated.
Note: Variant-panel coverage varies by population and assay; a negative panel does not exclude all CFTR-related disease.
Hereditary Hemochromatosis
Evaluates selected HFE variants in the context of suspected hereditary iron overload.
Clinical details
Specimen: Validated DNA specimen.
Application: Genetic evaluation alongside transferrin saturation, ferritin and clinical history.
Note: Variant frequencies and clinical significance vary across populations; genotype alone does not establish iron overload.
Familial Hypercholesterolemia Panel
Investigates inherited variants associated with familial hypercholesterolemia.
Clinical details
Specimen: Validated germline DNA specimen.
Application: Supporting diagnosis and cascade testing in affected families.
Note: A negative genetic result does not exclude a clinical diagnosis of familial hypercholesterolemia.
Hereditary Breast & Ovarian Cancer Panel
Assesses inherited cancer-predisposition variants in BRCA1, BRCA2 and other selected genes.
Clinical details
Specimen: Validated germline DNA specimen.
Application: Hereditary cancer risk assessment and family counselling.
Note: Germline testing and tumour-only testing answer different clinical questions. Pre- and post-test counselling are important.
BCR::ABL1 Quantitative Monitoring
Measures BCR::ABL1 fusion transcripts for monitoring chronic myeloid leukaemia.
Clinical details
Specimen: EDTA whole blood or bone marrow, depending on the validated protocol.
Application: Molecular response monitoring in CML.
Note: Results should use the appropriate International Scale where applicable and be interpreted with transcript type and treatment history.
JAK2 V617F Mutation
Detects a recurrent somatic mutation associated with several myeloproliferative neoplasms.
Clinical details
Specimen: EDTA whole blood or bone marrow as validated.
Application: Work-up of suspected polycythaemia vera, essential thrombocythaemia and primary myelofibrosis.
Note: Negative results may warrant evaluation for other relevant mutations, including CALR and MPL, according to the clinical picture.
EGFR Mutation Analysis
Identifies clinically relevant EGFR variants in appropriate lung cancer specimens.
Clinical details
Specimen: Validated tumour tissue or suitable plasma cell-free DNA.
Application: Molecular profiling to guide targeted treatment decisions.
Note: A negative plasma result may require tissue testing if clinically indicated.
KRAS / NRAS Mutation Panel
Evaluates relevant RAS mutations for molecular characterization of selected cancers.
Clinical details
Specimen: Validated tumour tissue or suitable liquid-biopsy specimen where indicated.
Application: Treatment selection in colorectal cancer and other approved clinical contexts.
Note: The report should specify covered exons, variants and assay limitations.
BRAF Mutation Analysis
Detects selected BRAF variants, including V600 alterations, in appropriate clinical settings.
Clinical details
Specimen: Validated tumour tissue or other approved specimen.
Application: Molecular characterization and treatment selection in specific cancers.
Note: Clinical relevance depends on tumour type and exact variant.
HER2 / ERBB2 Molecular Assessment
Assesses HER2 amplification or related molecular alterations in appropriate tumour types.
Clinical details
Specimen: Validated tumour tissue.
Application: Tumour classification and treatment selection in relevant cancers.
Note: Molecular testing should be interpreted alongside validated HER2 IHC/ISH algorithms as applicable. These methods are not automatically interchangeable.
Comprehensive Tumour Genomic Profiling
Evaluates multiple cancer-associated genes for selected substitutions, insertions, deletions and other reportable alterations.
Clinical details
Specimen: Tumour tissue or validated plasma cell-free DNA.
Application: Identification of potentially actionable alterations and selected biomarkers.
Note: Panel content, tumour purity, coverage and variant-detection limits must be stated. Results require clinical interpretation.
Inherited Thrombophilia Genetic Panel
Tests selected inherited thrombophilia variants when genetic investigation is clinically indicated.
Clinical details
Specimen: Validated germline DNA specimen.
Application: Selected inherited thrombophilia evaluations.
Note: Genetic testing does not replace clinical assessment and is not routinely indicated for every patient with venous thromboembolism. Protein C, protein S and antithrombin deficiencies may require other testing strategies.
G6PD Gene Analysis
Investigates genetic variants associated with glucose-6-phosphate dehydrogenase deficiency.
Clinical details
Specimen: Validated germline DNA specimen.
Application: Selected diagnostic or family investigations.
Note: Enzyme activity testing remains important; recent haemolysis or transfusion can affect its interpretation.
Hereditary Hemolytic Anemia Panel
Investigates selected inherited red-cell membrane and enzyme disorders.
Clinical details
Specimen: Validated germline DNA specimen.
Application: Selected unexplained haemolytic anaemias after appropriate laboratory assessment.
Note: Panel composition varies. Phenotypic tests and biochemical or enzyme studies may still be necessary.
Y-Chromosome Microdeletion Analysis
Detects selected Y-chromosome AZF-region deletions associated with impaired spermatogenesis.
Clinical details
Specimen: EDTA whole blood for germline DNA.
Application: Evaluation of selected cases of severe oligozoospermia or non-obstructive azoospermia.
Note: Indications depend on sperm concentration, examination and relevant clinical guidelines.
Conventional Karyotyping
Examines chromosome number and large structural chromosome changes.
Clinical details
Specimen: Depends on indication; peripheral blood is commonly used for constitutional analysis.
Application: Selected infertility, recurrent pregnancy loss and suspected chromosomal conditions.
Note: Karyotyping is a cytogenetic investigation, not a DNA sequencing test. It may miss submicroscopic abnormalities.
Non-Invasive Prenatal Testing (NIPT)
Analyses cell-free DNA in maternal blood to screen for selected fetal chromosomal aneuploidies.
Clinical details
Specimen: Maternal peripheral blood collected in a validated collection system.
Application: Prenatal screening for selected chromosomal conditions.
Note: NIPT is a screening test, not a definitive diagnosis. Positive or inconclusive findings require appropriate counselling and diagnostic follow-up.
Preimplantation Genetic Testing
Assesses selected genetic conditions or chromosome abnormalities in embryos created through IVF.
Clinical details
Specimen: Embryo biopsy material handled by a validated specialist workflow.
Application: Selected monogenic disorders, structural chromosome rearrangements or aneuploidy screening.
Note: Scope, limitations, confirmatory pathways and reproductive-genetics counselling are essential.
CYP2C19 Genotyping
Identifies selected CYP2C19 variants that affect metabolism of certain medicines.
Clinical details
Specimen: Validated germline DNA specimen.
Application: Selected prescribing decisions, including clopidogrel response assessment where recommended.
Note: The report should define allele coverage, inferred phenotype and relevant prescribing guidance.
CYP2D6 Pharmacogenomic Testing
Assesses CYP2D6 variants that influence the metabolism of selected medicines.
Clinical details
Specimen: Validated germline DNA specimen.
Application: Selected medication-related decisions under evidence-based prescribing guidance.
Note: CYP2D6 has complex variation, including copy-number changes and hybrid alleles; limited panels can misclassify phenotype.
TPMT / NUDT15 Genotyping
Assesses inherited variants associated with thiopurine intolerance and myelotoxicity risk.
Clinical details
Specimen: Validated germline DNA specimen.
Application: Supporting thiopurine prescribing and dose planning.
Note: Genotype results do not replace blood-count monitoring or other clinically required safety measures.
HLA-B*57:01 Testing
Identifies the HLA-B*57:01 allele relevant to abacavir hypersensitivity risk.
Clinical details
Specimen: Validated germline DNA specimen.
Application: Screening before abacavir treatment, according to applicable prescribing guidance.
Note: A positive result is clinically actionable for avoiding abacavir. Testing does not predict every type of drug reaction.
DPYD Pharmacogenomic Testing
Evaluates selected DPYD variants associated with fluoropyrimidine toxicity.
Clinical details
Specimen: Validated germline DNA specimen.
Application: Supporting risk assessment before fluoropyrimidine chemotherapy where indicated.
Note: A limited variant panel cannot exclude all genetic causes of toxicity. Follow current prescribing guidance and clinical monitoring protocols.
UGT1A1 Genotyping
Identifies selected UGT1A1 variants relevant to drug metabolism and inherited bilirubin handling.
Clinical details
Specimen: Validated germline DNA specimen.
Application: Selected irinotecan-related toxicity assessments and other appropriate clinical indications.
Note: Clinical significance depends on the variant, medicine, dose and current prescribing guidance.
Warfarin Pharmacogenomic Panel
Evaluates selected genetic variants associated with variability in warfarin dose requirements.
Clinical details
Specimen: Validated germline DNA specimen.
Application: Selected dose-support decisions when genetic information is clinically appropriate.
Note: Genotype does not replace INR monitoring, drug-interaction review or clinical assessment.
How to choose a molecular diagnostic test
01. Define the question
Determine whether the goal is pathogen detection, inherited variant identification, tumour profiling or treatment-response monitoring.
02. Select the method
Choose a validated assay appropriate to the target, variant types, specimen and required analytical sensitivity.
03. Interpret in context
Correlate findings with clinical presentation, family history and other laboratory or pathology results.
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