Introduction of Molecular Diagnostics Laboratory
Table of Contents
As we know, simple diseases are due to either metabolic disorders or infectious agents (bacteria, viruses, fungi, parasites, prions). Molecular Diagnostics is a powerful tool for the identification of both conditions at genetic levels (e.g. metabolic disorders like cancer, and anemia while infectious conditions like COVID-19 and AIDS). It is applied for the detection of genomic variants, aiming to facilitate detection, diagnosis, sub-classification, prognosis, and monitoring response to therapy. This laboratory is also useful for those microbes which are hard to cultivate (Chlamydia, Rickettsia, viruses), time taken, and even dead microbes detection in specimens. RT-PCR is the gold standard for COVID-19 diagnosis to find out the etiological agent, SARS-CoV-2. Similarly, GeneXpert is the confirmatory test for tuberculosis. If I’m not wrong, today is the molecular era since such laboratories are having a greater impact on the treatment and care of patients and thus ‘Molecular Diagnostics’ is the game-changer for medicine.
List of Molecular Biology Tests, Specimen, and Testing Methods
| S.No | Name of Tests | Specimen | Testing Method |
| 1. | Alpha Thalassemia Mutation Detection (α3.7, α4.2) | EDTA blood (3 ml) | GAP PCR |
| 2. | Alpha Thalassemia Mutation Detection (?3.7, ?4.2) | EDTA blood (3 ml) | Real-Time PCR |
| 3. | Beta- Thalassemia Mutation Detection (IVS1-5 G-C, 619 bp deletion, cd 8/9 + G, IVS1-1 G-T, 41/42 – TTCT) | EDTA blood (5 ml) | Real-Time PCR |
| 4. | BK Virus/John Cunningham virus (JCV) Quantitative Real-Time PCR | whole blood (10 ml) | Real-Time PCR |
| 5. | BRAF (gene) V600E Mutation | Tissue (1 cm / 1 Block) | Real-Time PCR |
| 6. | SARS-CoV-2 PCR | Nasopharyngeal swab | RT PCR |
| 7. | Cytomegalovirus (CMV) Viral Load | EDTA blood (5 ml) | Real-Time PCR |
| 8. | Dengue RNA PCR | EDTA blood (3 ml) | Real-Time PCR |
| 9. | Duchenne/Becker muscular dystrophy | EDTA blood (5 ml) | Real-Time PCR |
| 10. | Epidermal Growth Factor Receptor gene (EGFR) Mutation Analysis | FFPE Block (1 cm / 1 Block) | RT PCR |
| 11. | EGFR Mutation Analysis (Liquid Biopsy) | EDTA blood (5 ml) | RT PCR |
| 12. | EML-4 ALK Translocation by RT PCR | FFPE Block (one slide) | RT PCR |
| 13. | Fragile X (FMR 1) Mutation Screen | EDTA blood (5 ml) | Real-Time PCR |
| 14. | Gilbert Syndrome Mutation Analysis | EDTA blood (3 ml) | RT PCR |
| 15. | Glucose-6 Phosphate Dehydrogenase (G6PD) Gene Mutations | EDTA blood (3 ml) | Real-Time PCR |
| 16. | Hepatitis B Virus (HBV) Qualitative | EDTA blood (3 ml) | Real-Time PCR |
| 17. | HBV Viral Load Real-Time PCR | EDTA blood (3 ml) | Real-Time PCR |
| 18. | Hepatitis C virus (HCV) RNA PCR, QUALITATIVE | EDTA blood (3 ml) | Real-Time PCR |
| 19. | HCV RNA QUANTITATIVE | EDTA blood (3 ml) | Flocculation |
| 20. | HFE (Homeostatic Iron Regulator) gene mutations | EDTA blood (3 ml) | Spectrophotometry |
| 21. | Human leukocyte antigen B27(HLA B27) PCR | EDTA blood (3 ml) | Real-Time PCR |
| 22. | Human papillomavirus (HPV) DNA Detector | Swab (3 ml) | Real-Time PCR |
| 23. | Herpes simplex virus (HSV) DNA PCR | Serum ( 1ml) | Real-Time PCR |
| 24. | HPV (High Risk) (HPV types 16, 18, 31, 33, 35, 39, 45, 51, 52, 56, 58, 59, 66, 68) | Swab (1 ml) | Flocculation |
| 25. | Huntington Disease Molecular Analysis | EDTA blood (10 ml) | Real-Time PCR |
| 26. | Inflammatory bowel disease (IBD) Screening Panel (ASCA IgA, ASCA IgG, ANCA) | Serum ( 2 ml) | CMIA |
| 27. | JAK2 Exon 12 Mutation | EDTA blood (5 ml) | Real-Time PCR |
| 28. | JAK2 V617F Mutation Detection Exon 14 | EDTA blood (5 ml) | Real-Time PCR |
| 29. | JC/BK Virus (Quantatative) | EDTA blood (3 ml) | Real-Time PCR |
| 30 | Mycobacterium tuberculosis PCR (GeneXpert) | Sputum/Urine/BAL | Real-Time PCR |
| 31. | PML(Promyelocytic leukemia)/RARA (retinoic acid receptor alpha) t(15:17), Qualitative | EDTA blood (3 ml) | Real-Time PCR |
| 32. | PML/RaRa t(15:17), Quantitative | EDTA Blood (3 ml) | Real-Time PCR |
| 33. | SMA (spinal muscular atrophy) Carrier Detection | EDTA blood (5 ml) | MLPA Fragment Analysis |
| 34. | SRY (sex-determining region of the Y chromosome) Gene Detection | EDTA blood (3 ml) | RT PCR |
| 35. | Thalassemia; Alpha Thalassemia Muation Detection (?3.7, ?4.2, ?FIL, ?SEA, ?THAI ) PNDT | Swab (5 ml) | Real-Time PCR |
| 36. | Vericella Zoster Virus (VZV) PCR | EDTA blood (5 ml) | Real-Time PCR |
Keynotes on Molecular Diagnostics
- Gap-PCR stands for Gap-polymerase chain reaction.
- MLPA stands for multiplex ligation-dependent probe amplification.
- RT-PCR stands for a Reverse transcription-polymerase chain reaction.
- CMIA stands for Chemiluminescent Microparticle Immuno Assay.
- BK virus is a brief of the name of the first patient, from whom the virus was isolated in 1971 and the full name is not written because of personal identification following ethical guidelines.
- Echinoderm microtubule-associated protein-like 4 anaplastic lymphoma kinase (EML4-ALK) is a fusion gene.
- pANCA stands for Perinuclear Anti-Neutrophil Cytoplasmic Antibody while ASCA stands for Anti-Saccharomyces cerevisiae Antibody.
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